Variant report

Variant	rs61733962
Chromosome Location	chr16:31193948-31193949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31193500-31194611	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBL1XR1	chr16:31193831-31194025	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:31193788-31194119	U87	brain:	n/a	n/a
4	POLR2A	chr16:31193727-31194103	MCF-7	breast:	n/a	n/a
5	POLR2A	chr16:31193557-31193957	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:31193592-31194518	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:31190660-31197223	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr16:31193712-31194030	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBL1XR1	chr16:31193882-31194027	K562	blood:	n/a	n/a
10	POLR2A	chr16:31193447-31194110	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:31193696-31194557	GM12891	blood:	n/a	n/a
12	POLR2A	chr16:31193760-31194365	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31193507-31194120	K562	blood:	n/a	n/a
14	POLR2A	chr16:31190908-31195723	K562	blood:	n/a	n/a
15	POLR2A	chr16:31190153-31195916	GM12878	blood:	n/a	n/a
16	MYBL2	chr16:31193450-31194111	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:31193496-31194655	K562	blood:	n/a	n/a
18	POLR2A	chr16:31193496-31193966	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr16:31193460-31194059	U87	brain:	n/a	n/a
20	POLR2A	chr16:31193668-31194682	GM12891	blood:	n/a	n/a
21	POLR2A	chr16:31193491-31195932	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:31193666-31194013	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:31190296-31214398	PANC-1	pancreas:	n/a	n/a
24	HEY1	chr16:31193518-31194091	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:31190139-31214678	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:31190685-31194370	K562	blood:	n/a	n/a
27	POLR2A	chr16:31193765-31195835	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr16:31193499-31194249	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr16:31193371-31195872	GM12892	blood:	n/a	n/a
30	POLR2A	chr16:31190778-31195905	GM12892	blood:	n/a	n/a
31	POLR2A	chr16:31190225-31195735	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:31193512-31195756	A549	lung:	n/a	n/a
33	POLR2A	chr16:31190516-31195882	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:31193753-31194114	U87	brain:	n/a	n/a
35	POLR2A	chr16:31193454-31194628	U87	brain:	n/a	n/a
36	POLR2A	chr16:31193503-31194099	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr16:31193590-31195760	GM12878	blood:	n/a	n/a
38	POLR2A	chr16:31193578-31194190	HL-60	blood:	n/a	n/a
39	WRNIP1	chr16:31193694-31194442	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:31193724-31194066	Hela-S3	cervix:	n/a	n/a
41	HEY1	chr16:31191184-31195940	K562	blood:	n/a	chr16:31191879-31191894 chr16:31191563-31191578 chr16:31191399-31191414 chr16:31191657-31191672 chr16:31191575-31191590
42	POLR2A	chr16:31192946-31194620	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:31193802-31194013	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:31193758-31195831	GM12891	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

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	chr16:31132115..31134271-chr16:31191509..31194298,2	K562	blood:
4	chr16:31191732..31194178-chr16:31462220..31465790,3	MCF-7	breast:
5	chr16:31115614..31117488-chr16:31191253..31194151,3	MCF-7	breast:
6	chr16:31190494..31194030-chr16:31469173..31472392,6	MCF-7	breast:
7	chr16:30958732..30963097-chr16:31189619..31195213,8	K562	blood:
8	chr16:31190054..31194646-chr16:31224217..31229118,11	MCF-7	breast:
9	chr16:31149707..31163529-chr16:31187237..31198825,44	K562	blood:
10	chr16:31151687..31162079-chr16:31189046..31201898,43	K562	blood:
11	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
12	chr16:30994008..30999750-chr16:31190407..31194686,5	K562	blood:
13	chr16:31192016..31194265-chr16:31272981..31274956,2	MCF-7	breast:
14	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:
15	chr16:31152041..31157483-chr16:31189137..31194314,15	MCF-7	breast:
16	chr16:31006037..31010198-chr16:31189951..31194376,15	K562	blood:
17	chr16:31191539..31194106-chr16:31456375..31459334,2	K562	blood:
18	chr16:31126872..31130668-chr16:31190197..31195425,8	MCF-7	breast:
19	chr16:31041879..31046302-chr16:31191388..31194694,4	K562	blood:
20	chr16:31004521..31010198-chr16:31190050..31194376,11	K562	blood:
21	chr16:30958395..30965480-chr16:31189619..31195213,11	K562	blood:
22	chr16:30994943..30999750-chr16:31190298..31195127,7	K562	blood:
23	chr16:31127220..31133615-chr16:31189948..31195209,18	K562	blood:
24	chr16:31157660..31164019-chr16:31188659..31195219,17	MCF-7	breast:
25	chr16:31192167..31194425-chr16:31473279..31475396,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PYCARD-1	chr16:31193832-31194160	ENSG00000260304.1

No data

Variant related genes	Relation type
FUS	TF binding region
ENSG00000261474	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000263343	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000178226	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839571	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55643523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58865641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	1.00[AMR][1000 genomes]
rs73530263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	1.00[EUR][1000 genomes]
rs73532245	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532246	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][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	chr16:31190600-31194000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr16:31190600-31194000	Active TSS	NHDF-Ad	bronchial
3	chr16:31190600-31194200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:31190600-31194200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:31190600-31194200	Active TSS	HSMMtube	muscle
6	chr16:31190800-31195200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:31192200-31194600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:31192200-31195000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr16:31192200-31195200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr16:31192400-31194000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
11	chr16:31192400-31194200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
12	chr16:31192400-31194400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
13	chr16:31192400-31194600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:31192400-31195400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:31192400-31195400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr16:31192400-31195800	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr16:31192600-31194000	Flanking Active TSS	Fetal Brain Male	brain
18	chr16:31192600-31194000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
19	chr16:31192600-31194200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:31192600-31194200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:31192600-31194200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
22	chr16:31192600-31194200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
23	chr16:31192600-31194400	Transcr. at gene 5' and 3'	Thymus	Thymus
24	chr16:31192600-31194600	Transcr. at gene 5' and 3'	NHEK	skin
25	chr16:31192600-31194800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
26	chr16:31192600-31194800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:31192600-31195000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
28	chr16:31192600-31195000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
29	chr16:31192600-31195000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
30	chr16:31192600-31195000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr16:31192600-31195000	Transcr. at gene 5' and 3'	K562	blood
32	chr16:31192600-31195000	Transcr. at gene 5' and 3'	NH-A	brain
33	chr16:31192600-31195400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:31192600-31195400	Transcr. at gene 5' and 3'	A549	lung
35	chr16:31192600-31195600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
36	chr16:31192600-31195800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr16:31192800-31194000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:31192800-31194000	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
39	chr16:31192800-31194200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
40	chr16:31192800-31194400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:31192800-31194400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
42	chr16:31192800-31194400	Transcr. at gene 5' and 3'	HSMM	muscle
43	chr16:31192800-31194600	Transcr. at gene 5' and 3'	HepG2	liver
44	chr16:31192800-31195000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
45	chr16:31192800-31195000	Transcr. at gene 5' and 3'	HMEC	breast
46	chr16:31192800-31195600	Transcr. at gene 5' and 3'	Hela-S3	cervix
47	chr16:31192800-31195600	Transcr. at gene 5' and 3'	Osteobl	bone
48	chr16:31193000-31194000	Enhancers	Gastric	stomach
49	chr16:31193000-31194200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
50	chr16:31193000-31194200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood

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