Variant report

Variant	rs576347600
Chromosome Location	chr3:195163028-195163029
allele	A/C
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	ELF1	chr3:195162866-195164279	GM12878	blood:	n/a	n/a
2	CTCF	chr3:195163000-195163150	HCFaa	heart:	n/a	n/a
3	UBTF	chr3:195162305-195164154	K562	blood:	n/a	n/a
4	POLR2A	chr3:195162352-195164357	GM19099	blood:	n/a	n/a
5	TEAD4	chr3:195162499-195163274	K562	blood:	n/a	n/a
6	POLR2A	chr3:195162549-195164346	GM18526	blood:	n/a	n/a
7	MAX	chr3:195162880-195164234	GM12878	blood:	n/a	chr3:195164056-195164065 chr3:195164054-195164062 chr3:195164087-195164097 chr3:195164054-195164067 chr3:195163172-195163182 chr3:195164055-195164066 chr3:195164054-195164067 chr3:195164056-195164065
8	POLR2A	chr3:195162556-195163053	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:195162621-195164287	Hela-S3	cervix:	n/a	n/a
10	EGR1	chr3:195162794-195163281	GM12878	blood:	n/a	chr3:195163102-195163115 chr3:195163113-195163126 chr3:195163112-195163127
11	MYC	chr3:195162484-195164296	NB4	blood:	n/a	chr3:195164056-195164065 chr3:195164054-195164062 chr3:195164087-195164097 chr3:195164054-195164067 chr3:195163172-195163182 chr3:195164055-195164066 chr3:195164054-195164067 chr3:195164056-195164065
12	ZNF143	chr3:195162794-195164331	GM12878	blood:	n/a	chr3:195163353-195163371 chr3:195163472-195163482
13	CHD2	chr3:195162890-195163406	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:195162614-195164345	GM15510	blood:	n/a	n/a
15	SIN3AK20	chr3:195162272-195164544	MCF-7	breast:	n/a	n/a
16	CHD2	chr3:195162595-195163184	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:195162551-195163029	H1-neurons	neurons:	n/a	n/a
18	MAX	chr3:195162590-195163100	K562	blood:	n/a	n/a
19	MAZ	chr3:195162541-195164483	K562	blood:	n/a	chr3:195164056-195164065 chr3:195164054-195164062 chr3:195164087-195164097 chr3:195164054-195164067 chr3:195163172-195163182 chr3:195164055-195164066 chr3:195164054-195164067 chr3:195164056-195164065
20	POLR2A	chr3:195162529-195164460	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr3:195162558-195164320	GM19193	blood:	n/a	n/a
22	HMGN3	chr3:195162852-195164249	K562	blood:	n/a	n/a
23	UBTF	chr3:195162316-195164200	K562	blood:	n/a	n/a
24	CTCF	chr3:195162920-195163070	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr3:195162342-195164843	GM12891	blood:	n/a	n/a
26	POLR2A	chr3:195162542-195164516	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr3:195162943-195164374	ProgFib	skin:	n/a	n/a
28	CHD1	chr3:195161666-195163806	GM12878	blood:	n/a	chr3:195163403-195163413
29	MXI1	chr3:195161907-195164468	IMR90	lung:	n/a	chr3:195163884-195163899 chr3:195164055-195164064
30	ZBTB7A	chr3:195162793-195163299	K562	blood:	n/a	chr3:195163177-195163186 chr3:195163134-195163141
31	ELF1	chr3:195162630-195163275	K562	blood:	n/a	n/a
32	CTCF	chr3:195162900-195163050	GM12874	blood:	n/a	n/a
33	POLR2A	chr3:195162972-195164316	K562	blood:	n/a	n/a
34	CTCF	chr3:195162920-195163070	HepG2	liver:	n/a	n/a
35	CTCF	chr3:195162920-195163070	GM12875	blood:	n/a	n/a
36	RAD21	chr3:195162870-195163070	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:195163020-195163170	BJ	skin:	n/a	n/a
38	EGR1	chr3:195162941-195163274	K562	blood:	n/a	chr3:195163102-195163115 chr3:195163113-195163126 chr3:195163112-195163127
39	MAZ	chr3:195161772-195164434	IMR90	lung:	n/a	chr3:195161953-195161962 chr3:195164056-195164065 chr3:195164054-195164062 chr3:195164087-195164097 chr3:195164054-195164067 chr3:195163172-195163182 chr3:195164055-195164066 chr3:195164054-195164067 chr3:195164056-195164065
40	CCNT2	chr3:195162687-195164243	K562	blood:	n/a	chr3:195163107-195163116 chr3:195163855-195163864
41	CTCF	chr3:195162920-195163070	GM12878	blood:	n/a	n/a
42	CTCF	chr3:195162920-195163070	GM12872	blood:	n/a	n/a
43	POLR2A	chr3:195162573-195164310	GM12878	blood:	n/a	n/a
44	POLR2A	chr3:195162476-195164451	GM12878	blood:	n/a	n/a
45	MTA3	chr3:195162286-195163257	GM12878	blood:	n/a	n/a
46	CTCF	chr3:195163020-195163170	HPF	lung:	n/a	n/a
47	ZBTB7A	chr3:195162550-195163865	ECC-1	luminal epithelium:	n/a	chr3:195163177-195163186 chr3:195163134-195163141 chr3:195163854-195163861
48	ELF1	chr3:195162783-195163051	K562	blood:	n/a	n/a
49	EGR1	chr3:195162922-195164200	K562	blood:	n/a	chr3:195163102-195163115 chr3:195163986-195163996 chr3:195163113-195163126 chr3:195163985-195163996 chr3:195164084-195164097 chr3:195164115-195164125 chr3:195163112-195163127 chr3:195163984-195163997 chr3:195163348-195163372
50	HA-E2F1	chr3:195162809-195164164	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195162201..195164559-chr3:195267983..195270079,2	MCF-7	breast:
2	chr19:49956428..49957025-chr3:195162753..195163744,2	Hela-S3	cervix:
3	chr3:194990825..194992800-chr3:195162290..195164935,2	K562	blood:
4	chr3:194353939..194355661-chr3:195162594..195164351,2	MCF-7	breast:
5	chr3:195162578..195166480-chr3:195268710..195271525,3	K562	blood:
6	chr3:195139843..195142071-chr3:195162223..195164874,2	MCF-7	breast:
7	chr3:194997826..195001793-chr3:195162641..195164811,3	MCF-7	breast:
8	chr3:194991198..194994178-chr3:195162096..195163902,2	K562	blood:
9	chr3:194991144..194993841-chr3:195162528..195164078,2	MCF-7	breast:
10	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:

Variant related genes	Relation type
ACAP2	TF binding region
ENSG00000145014	Chromatin interaction
ENSG00000223711	Chromatin interaction
ENSG00000207368	Chromatin interaction
ENSG00000114331	Chromatin interaction
ENSG00000161618	Chromatin interaction
ENSG00000104872	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
13	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
16	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
17	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
18	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	esv3445442	chr3:195162488-195165036	Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 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	chr3:195161200-195164200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:195161200-195164200	Active TSS	GM12878-XiMat	blood
3	chr3:195161200-195164600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:195161400-195163200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:195161400-195164200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:195161400-195164200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:195161400-195164200	Active TSS	K562	blood
8	chr3:195161600-195164200	Active TSS	Muscle Satellite Cultured Cells	--
9	chr3:195161800-195164200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:195161800-195164200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:195161800-195164200	Active TSS	HMEC	breast
12	chr3:195161800-195164400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:195162000-195163600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:195162000-195164200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr3:195162000-195164200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:195162000-195164200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr3:195162000-195164200	Active TSS	Brain Angular Gyrus	brain
18	chr3:195162000-195164200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:195162000-195164200	Active TSS	HSMM	muscle
20	chr3:195162000-195164400	Active TSS	Psoas Muscle	Psoas
21	chr3:195162000-195164400	Active TSS	NHDF-Ad	bronchial
22	chr3:195162000-195164600	Active TSS	Right Atrium	heart
23	chr3:195162200-195163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:195162200-195163800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:195162200-195163800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:195162200-195163800	Active TSS	Esophagus	oesophagus
27	chr3:195162200-195163800	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr3:195162200-195164000	Active TSS	Thymus	Thymus
29	chr3:195162200-195164200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr3:195162200-195164200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:195162200-195164200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:195162200-195164200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:195162200-195164200	Active TSS	Fetal Kidney	kidney
34	chr3:195162200-195164200	Active TSS	Fetal Stomach	stomach
35	chr3:195162200-195164200	Active TSS	Stomach Smooth Muscle	stomach
36	chr3:195162200-195164200	Active TSS	NHLF	lung
37	chr3:195162200-195164400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:195162200-195164400	Active TSS	Colonic Mucosa	Colon
39	chr3:195162200-195164400	Active TSS	Fetal Muscle Trunk	muscle
40	chr3:195162200-195164400	Active TSS	Ovary	ovary
41	chr3:195162200-195164400	Active TSS	Right Ventricle	heart
42	chr3:195162200-195164600	Active TSS	Aorta	Aorta
43	chr3:195162400-195163200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:195162400-195163600	Active TSS	Stomach Mucosa	stomach
45	chr3:195162400-195163800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:195162400-195163800	Active TSS	Gastric	stomach
47	chr3:195162400-195163800	Active TSS	Lung	lung
48	chr3:195162400-195163800	Active TSS	Small Intestine	intestine
49	chr3:195162400-195164000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:195162400-195164200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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