Variant report

Variant	rs1423935
Chromosome Location	chr16:31191974-31191975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:31189939-31192131	GM12878	blood:	n/a	n/a
2	EP300	chr16:31190996-31192150	HepG2	liver:	n/a	chr16:31191570-31191579
3	ELF1	chr16:31190795-31192249	MCF-7	breast:	n/a	chr16:31191571-31191580 chr16:31191382-31191393 chr16:31191871-31191883
4	GABPA	chr16:31191752-31192251	SK-N-SH	brain:	n/a	chr16:31191928-31191937 chr16:31191928-31191939 chr16:31191928-31191942 chr16:31191925-31191939
5	GTF2F1	chr16:31190901-31192119	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr16:31190257-31193157	GM12878	blood:	n/a	chr16:31191164-31191174 chr16:31192004-31192013 chr16:31191558-31191568 chr16:31191159-31191169
7	ZKSCAN1	chr16:31190679-31192072	Hela-S3	cervix:	n/a	n/a
8	MAX	chr16:31190500-31192802	HepG2	liver:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
9	POU2F2	chr16:31191239-31192109	GM12878	blood:	n/a	chr16:31191271-31191284 chr16:31191271-31191284 chr16:31191445-31191457
10	CEBPD	chr16:31191246-31192318	K562	blood:	n/a	n/a
11	USF1	chr16:31191764-31192239	SK-N-SH	brain:	n/a	chr16:31192117-31192133
12	MAFK	chr16:31190899-31192103	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:31190828-31192314	SK-N-MC	brain:	n/a	n/a
14	TAF1	chr16:31190818-31192243	MCF-7	breast:	n/a	n/a
15	ZNF143	chr16:31190717-31192018	K562	blood:	n/a	chr16:31191864-31191882
16	ELF1	chr16:31191081-31192240	MCF-7	breast:	n/a	chr16:31191571-31191580 chr16:31191382-31191393 chr16:31191871-31191883
17	TBP	chr16:31190103-31192399	H1-hESC	embryonic stem cell:	n/a	n/a
18	PBX3	chr16:31191786-31192207	A549	lung:	n/a	n/a
19	JUND	chr16:31190949-31192203	K562	blood:	n/a	chr16:31191742-31191751
20	RELA	chr16:31190259-31192150	GM12892	blood:	n/a	n/a
21	RCOR1	chr16:31190619-31192193	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr16:31191266-31192172	K562	blood:	n/a	chr16:31192119-31192129 chr16:31191445-31191455
23	CHD2	chr16:31190873-31192306	GM12878	blood:	n/a	chr16:31191164-31191174 chr16:31192004-31192013 chr16:31191558-31191568 chr16:31191159-31191169
24	GTF2F1	chr16:31190923-31192232	K562	blood:	n/a	n/a
25	KAT2A	chr16:31191341-31192430	Hela-S3	cervix:	n/a	n/a
26	JUND	chr16:31190149-31192543	GM12878	blood:	n/a	chr16:31191742-31191751
27	MTA3	chr16:31189905-31192315	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr16:31191322-31192212	HepG2	liver:	n/a	n/a
29	MAX	chr16:31190581-31193182	A549	lung:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
30	YY1	chr16:31191272-31192124	HepG2	liver:	n/a	chr16:31191574-31191588 chr16:31191710-31191718 chr16:31191571-31191580 chr16:31191565-31191579 chr16:31191707-31191729 chr16:31191707-31191717 chr16:31191857-31191868 chr16:31191706-31191718
31	MYC	chr16:31190763-31192415	A549	lung:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
32	POLR2A	chr16:31190856-31192293	HEK293	kidney:	n/a	n/a
33	POLR2A	chr16:31190666-31192976	Hela-S3	cervix:	n/a	n/a
34	STAT5A	chr16:31190839-31192101	GM12878	blood:	n/a	chr16:31191366-31191374
35	HEY1	chr16:31190841-31193110	K562	blood:	n/a	chr16:31191879-31191894 chr16:31191563-31191578 chr16:31191399-31191414 chr16:31191657-31191672 chr16:31191575-31191590
36	POLR2A	chr16:31190895-31193319	K562	blood:	n/a	n/a
37	POLR2A	chr16:31190754-31192802	Hela-S3	cervix:	n/a	n/a
38	HMGN3	chr16:31190738-31192265	K562	blood:	n/a	n/a
39	TAF1	chr16:31190938-31192215	K562	blood:	n/a	n/a
40	SIN3AK20	chr16:31190767-31192780	PANC-1	pancreas:	n/a	n/a
41	E2F4	chr16:31190904-31192678	K562	blood:	n/a	chr16:31191743-31191755 chr16:31191735-31191747 chr16:31191653-31191664 chr16:31191653-31191660 chr16:31192218-31192230 chr16:31191663-31191675 chr16:31191650-31191667 chr16:31191448-31191457 chr16:31192219-31192226 chr16:31191652-31191661 chr16:31191400-31191409 chr16:31191142-31191152 chr16:31192094-31192105 chr16:31192219-31192226 chr16:31191166-31191175 chr16:31192218-31192227 chr16:31192165-31192172 chr16:31192219-31192226 chr16:31191929-31191938 chr16:31191653-31191664 chr16:31191653-31191664 chr16:31192031-31192040
42	TAF1	chr16:31190735-31192169	H1-neurons	neurons:	n/a	n/a
43	CHD1	chr16:31190198-31193440	IMR90	lung:	n/a	chr16:31191164-31191174 chr16:31192004-31192013 chr16:31191558-31191568 chr16:31191159-31191169
44	RUNX3	chr16:31190207-31192328	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:31190807-31192356	MCF-7	breast:	n/a	n/a
46	HCFC1	chr16:31191006-31192578	K562	blood:	n/a	n/a
47	MYC	chr16:31191166-31192412	K562	blood:	n/a	chr16:31192111-31192120
48	YY1	chr16:31191275-31192135	H1-hESC	embryonic stem cell:	n/a	chr16:31191574-31191588 chr16:31192116-31192127 chr16:31191710-31191718 chr16:31191571-31191580 chr16:31191565-31191579 chr16:31191707-31191729 chr16:31191707-31191717 chr16:31192119-31192133 chr16:31191857-31191868 chr16:31191706-31191718
49	POLR2A	chr16:31191276-31192221	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr16:31190841-31192248	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31126778..31130864-chr16:31189092..31195209,17	K562	blood:
2	chr16:31172186..31178618-chr16:31189730..31194059,7	MCF-7	breast:
3	chr16:31189605..31193047-chr16:31225207..31229243,8	MCF-7	breast:
4	chr16:31127491..31131830-chr16:31190393..31192870,6	MCF-7	breast:
5	chr13:49549672..49551500-chr16:31190171..31192875,2	MCF-7	breast:
6	chr1:149858446..149859033-chr16:31191149..31192105,2	Hela-S3	cervix:
7	chr16:31191136..31192870-chr16:31404226..31406023,2	MCF-7	breast:
8	chr16:31191053..31192012-chrX:49041071..49041659,2	Hela-S3	cervix:
9	chr16:31132115..31134271-chr16:31191509..31194298,2	K562	blood:
10	chr16:31191732..31194178-chr16:31462220..31465790,3	MCF-7	breast:
11	chr16:31115614..31117488-chr16:31191253..31194151,3	MCF-7	breast:
12	chr16:31191300..31192165-chr7:5569505..5570360,3	Hela-S3	cervix:
13	chr16:31190068..31192732-chr16:31364834..31366748,2	MCF-7	breast:
14	chr16:31190494..31194030-chr16:31469173..31472392,6	MCF-7	breast:
15	chr16:31135331..31138957-chr16:31191389..31193517,3	K562	blood:
16	chr16:31098939..31101568-chr16:31190288..31192839,3	MCF-7	breast:
17	chr1:46215935..46216640-chr16:31191409..31192140,2	Hela-S3	cervix:
18	chr16:31184473..31186014-chr16:31191135..31192899,2	MCF-7	breast:
19	chr16:31190876..31193496-chr16:31467915..31469543,2	K562	blood:
20	chr16:31189986..31193003-chr16:31453112..31456004,3	MCF-7	breast:
21	chr16:31118660..31120523-chr16:31190662..31192940,2	MCF-7	breast:
22	chr16:31082536..31087626-chr16:31189682..31193300,10	K562	blood:
23	chr16:31104719..31108663-chr16:31190189..31193568,7	MCF-7	breast:
24	chr16:31103018..31109714-chr16:31190079..31193155,12	K562	blood:
25	chr16:31146560..31148604-chr16:31190124..31192018,2	K562	blood:
26	chr16:31190869..31192823-chr20:49543884..49546240,2	MCF-7	breast:
27	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
28	chr16:30708214..30710330-chr16:31190333..31193156,2	K562	blood:
29	chr16:30886263..30888030-chr16:31191339..31192931,2	K562	blood:
30	chr16:31140279..31143875-chr16:31189793..31193230,5	MCF-7	breast:
31	chr16:31190054..31194646-chr16:31224217..31229118,11	MCF-7	breast:
32	chr16:30933224..30936181-chr16:31190353..31192929,3	MCF-7	breast:
33	chr16:31117735..31121210-chr16:31190065..31193528,11	K562	blood:
34	chr16:31176133..31177649-chr16:31191065..31192610,2	MCF-7	breast:
35	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
36	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
37	chr16:31189995..31193017-chr16:31468555..31472249,11	K562	blood:
38	chr16:31190260..31192807-chr6:26031049..26033016,2	K562	blood:
39	chr16:31007263..31009136-chr16:31190228..31192701,2	MCF-7	breast:
40	chr16:31191718..31192257-chr9:95432237..95432867,2	Hela-S3	cervix:
41	chr1:158979699..158980284-chr16:31191231..31192125,2	Hela-S3	cervix:
42	chr16:31191474..31192376-chr16:90088655..90089570,2	Hela-S3	cervix:
43	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
44	chr16:31191394..31192230-chr17:35766949..35767524,2	Hela-S3	cervix:
45	chr1:201979326..201979987-chr16:31191451..31192358,2	Hela-S3	cervix:
46	chr16:31191421..31192034-chr8:33370634..33371635,3	Hela-S3	cervix:
47	chr16:31191477..31192181-chr16:80837924..80838854,2	Hela-S3	cervix:
48	chr16:31153342..31154254-chr16:31191493..31192027,2	MCF-7	breast:
49	chr16:30994008..30999750-chr16:31190407..31194686,5	K562	blood:
50	chr16:30967331..30971455-chr16:31189672..31193521,14	K562	blood:

Variant related genes	Relation type
FUS	TF binding region
ENSG00000124693	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000263343	Chromatin interaction
ENSG00000163435	Chromatin interaction
ENSG00000156886	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000157483	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000255663	Chromatin interaction
ENSG00000239039	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000185875	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000141013	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000270066	Chromatin interaction
ENSG00000101126	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000169223	Chromatin interaction
ENSG00000140678	Chromatin interaction
ENSG00000262366	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000136243	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000108264	Chromatin interaction
ENSG00000234678	Chromatin interaction
ENSG00000163565	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000260911	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000166446	Chromatin interaction
ENSG00000107485	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000102103	Chromatin interaction
ENSG00000126768	Chromatin interaction
ENSG00000169896	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000065135	Chromatin interaction
ENSG00000012211	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000181472	Chromatin interaction
ENSG00000008294	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000261385	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000102531	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000171858	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000184640	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000103769	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000147457	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000101310	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000076053	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs74015512	1.00[AMR][1000 genomes]
rs74018304	1.00[AMR][1000 genomes]
rs74018305	1.00[AMR][1000 genomes]
rs74018306	1.00[AMR][1000 genomes]
rs74018313	1.00[AMR][1000 genomes]
rs8048937	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
9	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31190000-31193600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:31190000-31193600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr16:31190200-31192200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:31190200-31192600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:31190200-31192600	Active TSS	NHLF	lung
6	chr16:31190200-31193000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:31190200-31193800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:31190200-31193800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:31190400-31192200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:31190400-31192200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:31190400-31192200	Active TSS	Colonic Mucosa	Colon
12	chr16:31190400-31192400	Active TSS	Fetal Intestine Small	intestine
13	chr16:31190400-31192600	Active TSS	Fetal Muscle Trunk	muscle
14	chr16:31190400-31192600	Active TSS	Right Ventricle	heart
15	chr16:31190400-31192800	Active TSS	Fetal Lung	lung
16	chr16:31190400-31193000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:31190400-31193400	Active TSS	Psoas Muscle	Psoas
18	chr16:31190400-31193600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr16:31190400-31193600	Active TSS	Left Ventricle	heart
20	chr16:31190600-31192200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr16:31190600-31192200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
22	chr16:31190600-31192400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:31190600-31192400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:31190600-31192400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr16:31190600-31192600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:31190600-31192600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr16:31190600-31192600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr16:31190600-31192600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr16:31190600-31192600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr16:31190600-31192600	Active TSS	Colon Smooth Muscle	Colon
31	chr16:31190600-31192600	Active TSS	Pancreas	Pancrea
32	chr16:31190600-31192600	Active TSS	Thymus	Thymus
33	chr16:31190600-31192600	Active TSS	A549	lung
34	chr16:31190600-31192800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:31190600-31192800	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr16:31190600-31192800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr16:31190600-31192800	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr16:31190600-31192800	Active TSS	Gastric	stomach
39	chr16:31190600-31192800	Active TSS	Lung	lung
40	chr16:31190600-31192800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr16:31190600-31192800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr16:31190600-31192800	Active TSS	Small Intestine	intestine
43	chr16:31190600-31192800	Bivalent/Poised TSS	HepG2	liver
44	chr16:31190600-31193000	Active TSS	Aorta	Aorta
45	chr16:31190600-31193200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:31190600-31193200	Active TSS	Esophagus	oesophagus
47	chr16:31190600-31193400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:31190600-31193600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:31190600-31193600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:31190600-31193800	Active TSS	Fetal Kidney	kidney

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