Variant report

Variant	rs11861879
Chromosome Location	chr16:31192496-31192497
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	POLR2A	chr16:31192237-31192671	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr16:31190257-31193157	GM12878	blood:	n/a	chr16:31191164-31191174 chr16:31192004-31192013 chr16:31191558-31191568 chr16:31191159-31191169
3	MAX	chr16:31190500-31192802	HepG2	liver:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
4	CHD2	chr16:31192482-31192682	Hela-S3	cervix:	n/a	n/a
5	JUND	chr16:31190149-31192543	GM12878	blood:	n/a	chr16:31191742-31191751
6	MAX	chr16:31190581-31193182	A549	lung:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
7	POLR2A	chr16:31190666-31192976	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr16:31190841-31193110	K562	blood:	n/a	chr16:31191879-31191894 chr16:31191563-31191578 chr16:31191399-31191414 chr16:31191657-31191672 chr16:31191575-31191590
9	POLR2A	chr16:31190895-31193319	K562	blood:	n/a	n/a
10	POLR2A	chr16:31190754-31192802	Hela-S3	cervix:	n/a	n/a
11	REST	chr16:31192492-31192696	K562	blood:	n/a	n/a
12	SIN3AK20	chr16:31190767-31192780	PANC-1	pancreas:	n/a	n/a
13	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
14	CHD1	chr16:31190198-31193440	IMR90	lung:	n/a	chr16:31191164-31191174 chr16:31192004-31192013 chr16:31191558-31191568 chr16:31191159-31191169
15	HCFC1	chr16:31191006-31192578	K562	blood:	n/a	n/a
16	SIN3AK20	chr16:31192371-31192939	K562	blood:	n/a	n/a
17	POLR2A	chr16:31190906-31193251	K562	blood:	n/a	n/a
18	POLR2A	chr16:31190731-31193336	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr16:31190660-31197223	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr16:31192401-31193247	PANC-1	pancreas:	n/a	n/a
21	CHD1	chr16:31190384-31193301	H1-hESC	embryonic stem cell:	n/a	chr16:31191164-31191174 chr16:31192004-31192013 chr16:31191558-31191568 chr16:31191159-31191169
22	MYC	chr16:31190492-31192800	K562	blood:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
23	POLR2A	chr16:31190391-31192939	HepG2	liver:	n/a	n/a
24	MAZ	chr16:31190693-31192756	K562	blood:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
25	POLR2A	chr16:31190906-31193204	K562	blood:	n/a	n/a
26	POLR2A	chr16:31190033-31193291	GM12891	blood:	n/a	n/a
27	EP300	chr16:31190963-31192883	K562	blood:	n/a	chr16:31191570-31191579
28	MXI1	chr16:31190587-31192906	IMR90	lung:	n/a	n/a
29	POLR2A	chr16:31190973-31193339	HL-60	blood:	n/a	n/a
30	BCLAF1	chr16:31191172-31192711	K562	blood:	n/a	chr16:31191572-31191581 chr16:31192123-31192132 chr16:31191419-31191428 chr16:31191398-31191411
31	POLR2A	chr16:31190590-31192847	PFSK-1	brain:	n/a	n/a
32	MAX	chr16:31190615-31192729	Hela-S3	cervix:	n/a	chr16:31192111-31192120 chr16:31190763-31190772
33	MAX	chr16:31192442-31192752	K562	blood:	n/a	n/a
34	POLR2A	chr16:31190724-31193209	U87	brain:	n/a	n/a
35	POLR2A	chr16:31190855-31193169	Hela-S3	cervix:	n/a	n/a
36	MAFF	chr16:31192439-31192606	K562	blood:	n/a	n/a
37	MAFF	chr16:31192473-31192519	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:31190864-31192640	GM12878	blood:	n/a	n/a
39	ELF1	chr16:31192484-31192800	K562	blood:	n/a	n/a
40	MYC	chr16:31190916-31192688	K562	blood:	n/a	chr16:31192111-31192120
41	POLR2A	chr16:31190880-31193172	K562	blood:	n/a	n/a
42	HCFC1	chr16:31190221-31193100	Hela-S3	cervix:	n/a	n/a
43	MAFK	chr16:31192402-31192510	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:31190737-31193161	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr16:31190601-31193189	GM12891	blood:	n/a	n/a
46	POLR2A	chr16:31190727-31192692	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr16:31190856-31193284	GM12878	blood:	n/a	n/a
48	ZNF384	chr16:31191195-31192584	K562	blood:	n/a	chr16:31191648-31191656
49	POLR2A	chr16:31190532-31192696	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr16:31192293-31192997	HCT-116	colon:	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	chr16:31191136..31192870-chr16:31404226..31406023,2	MCF-7	breast:
7	chr16:31132115..31134271-chr16:31191509..31194298,2	K562	blood:
8	chr16:31191732..31194178-chr16:31462220..31465790,3	MCF-7	breast:
9	chr16:31115614..31117488-chr16:31191253..31194151,3	MCF-7	breast:
10	chr16:31190068..31192732-chr16:31364834..31366748,2	MCF-7	breast:
11	chr16:31190494..31194030-chr16:31469173..31472392,6	MCF-7	breast:
12	chr16:31135331..31138957-chr16:31191389..31193517,3	K562	blood:
13	chr16:31098939..31101568-chr16:31190288..31192839,3	MCF-7	breast:
14	chr16:31184473..31186014-chr16:31191135..31192899,2	MCF-7	breast:
15	chr16:31190876..31193496-chr16:31467915..31469543,2	K562	blood:
16	chr16:31189986..31193003-chr16:31453112..31456004,3	MCF-7	breast:
17	chr16:31118660..31120523-chr16:31190662..31192940,2	MCF-7	breast:
18	chr16:31082536..31087626-chr16:31189682..31193300,10	K562	blood:
19	chr16:31104719..31108663-chr16:31190189..31193568,7	MCF-7	breast:
20	chr16:31103018..31109714-chr16:31190079..31193155,12	K562	blood:
21	chr16:31190869..31192823-chr20:49543884..49546240,2	MCF-7	breast:
22	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
23	chr16:30708214..30710330-chr16:31190333..31193156,2	K562	blood:
24	chr16:30886263..30888030-chr16:31191339..31192931,2	K562	blood:
25	chr16:31140279..31143875-chr16:31189793..31193230,5	MCF-7	breast:
26	chr16:31190054..31194646-chr16:31224217..31229118,11	MCF-7	breast:
27	chr16:30933224..30936181-chr16:31190353..31192929,3	MCF-7	breast:
28	chr16:31117735..31121210-chr16:31190065..31193528,11	K562	blood:
29	chr16:31176133..31177649-chr16:31191065..31192610,2	MCF-7	breast:
30	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
31	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
32	chr16:31189995..31193017-chr16:31468555..31472249,11	K562	blood:
33	chr16:31190260..31192807-chr6:26031049..26033016,2	K562	blood:
34	chr16:31007263..31009136-chr16:31190228..31192701,2	MCF-7	breast:
35	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
36	chr16:30994008..30999750-chr16:31190407..31194686,5	K562	blood:
37	chr16:30967331..30971455-chr16:31189672..31193521,14	K562	blood:
38	chr16:31139340..31148115-chr16:31189133..31193213,16	MCF-7	breast:
39	chr16:30774476..30777183-chr16:31191199..31192965,2	K562	blood:
40	chr16:31103889..31108377-chr16:31189247..31192858,8	MCF-7	breast:
41	chr16:31103018..31108579-chr16:31189579..31192896,9	K562	blood:
42	chr16:31082583..31087626-chr16:31190328..31193369,8	K562	blood:
43	chr16:31192016..31194265-chr16:31272981..31274956,2	MCF-7	breast:
44	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
45	chr16:30952173..30954212-chr16:31190131..31192878,2	MCF-7	breast:
46	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
47	chr16:31006037..31010198-chr16:31189951..31194376,15	K562	blood:
48	chr16:31190412..31192791-chr16:31452849..31455958,6	MCF-7	breast:
49	chr16:31010497..31013934-chr16:31191507..31193330,3	K562	blood:
50	chr16:31144485..31148429-chr16:31189146..31193121,7	MCF-7	breast:

Variant related genes	Relation type
FUS	TF binding region
ENSG00000260911	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140678	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000262366	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000102531	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000156886	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000263343	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000101126	Chromatin interaction
ENSG00000151006	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000261385	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11862215	1.00[AFR][1000 genomes]
rs11864804	1.00[AFR][1000 genomes]
rs11865730	1.00[AFR][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	chr16:31190200-31192600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:31190200-31192600	Active TSS	NHLF	lung
5	chr16:31190200-31193000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr16:31190200-31193800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:31190200-31193800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:31190400-31192600	Active TSS	Fetal Muscle Trunk	muscle
9	chr16:31190400-31192600	Active TSS	Right Ventricle	heart
10	chr16:31190400-31192800	Active TSS	Fetal Lung	lung
11	chr16:31190400-31193000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:31190400-31193400	Active TSS	Psoas Muscle	Psoas
13	chr16:31190400-31193600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:31190400-31193600	Active TSS	Left Ventricle	heart
15	chr16:31190600-31192600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:31190600-31192600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr16:31190600-31192600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr16:31190600-31192600	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr16:31190600-31192600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr16:31190600-31192600	Active TSS	Colon Smooth Muscle	Colon
21	chr16:31190600-31192600	Active TSS	Pancreas	Pancrea
22	chr16:31190600-31192600	Active TSS	Thymus	Thymus
23	chr16:31190600-31192600	Active TSS	A549	lung
24	chr16:31190600-31192800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:31190600-31192800	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr16:31190600-31192800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr16:31190600-31192800	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr16:31190600-31192800	Active TSS	Gastric	stomach
29	chr16:31190600-31192800	Active TSS	Lung	lung
30	chr16:31190600-31192800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr16:31190600-31192800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr16:31190600-31192800	Active TSS	Small Intestine	intestine
33	chr16:31190600-31192800	Bivalent/Poised TSS	HepG2	liver
34	chr16:31190600-31193000	Active TSS	Aorta	Aorta
35	chr16:31190600-31193200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31190600-31193200	Active TSS	Esophagus	oesophagus
37	chr16:31190600-31193400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:31190600-31193600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:31190600-31193600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:31190600-31193800	Active TSS	Fetal Kidney	kidney
41	chr16:31190600-31193800	Active TSS	Ovary	ovary
42	chr16:31190600-31194000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr16:31190600-31194000	Active TSS	NHDF-Ad	bronchial
44	chr16:31190600-31194200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr16:31190600-31194200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:31190600-31194200	Active TSS	HSMMtube	muscle
47	chr16:31190800-31192600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr16:31190800-31192600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:31190800-31192600	Active TSS	Brain Angular Gyrus	brain
50	chr16:31190800-31192600	Active TSS	Brain Cingulate Gyrus	brain

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