Variant report

Variant	rs202176784
Chromosome Location	chr3:195935211-195935212
allele	C/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	MYC	chr3:195935103-195935460	K562	blood:	n/a	chr3:195935244-195935253
2	ELF1	chr3:195935154-195935577	K562	blood:	n/a	chr3:195935370-195935383
3	EGR1	chr3:195934997-195935413	H1-hESC	embryonic stem cell:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
4	USF1	chr3:195935149-195935323	SK-N-SH_RA	brain:	n/a	n/a
5	USF2	chr3:195934826-195935436	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr3:195935155-195935423	K562	blood:	n/a	chr3:195935244-195935253
7	IRF1	chr3:195934679-195935494	K562	blood:	n/a	n/a
8	MXI1	chr3:195935162-195935421	K562	blood:	n/a	chr3:195935243-195935252
9	SP4	chr3:195934956-195935324	H1-hESC	embryonic stem cell:	n/a	chr3:195935101-195935112 chr3:195935083-195935094
10	RCOR1	chr3:195935208-195935465	K562	blood:	n/a	n/a
11	EGR1	chr3:195935021-195935583	ECC-1	luminal epithelium:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
12	MAX	chr3:195935074-195935475	K562	blood:	n/a	chr3:195935244-195935253
13	TBP	chr3:195934727-195935413	K562	blood:	n/a	n/a
14	ATF3	chr3:195935158-195935369	K562	blood:	n/a	n/a
15	SP4	chr3:195934684-195935462	H1-hESC	embryonic stem cell:	n/a	chr3:195935101-195935112 chr3:195935083-195935094 chr3:195934699-195934715
16	HEY1	chr3:195935161-195935463	K562	blood:	n/a	n/a
17	MAX	chr3:195934694-195935705	K562	blood:	n/a	chr3:195935244-195935253
18	MAX	chr3:195935035-195935611	H1-hESC	embryonic stem cell:	n/a	chr3:195935244-195935253
19	SP1	chr3:195934645-195935271	K562	blood:	n/a	chr3:195935101-195935112 chr3:195934689-195934703 chr3:195935083-195935094
20	USF1	chr3:195935087-195935463	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr3:195934986-195935589	ECC-1	luminal epithelium:	n/a	n/a
22	NR2F2	chr3:195934660-195935614	K562	blood:	n/a	n/a
23	USF1	chr3:195934941-195935414	K562	blood:	n/a	n/a
24	ELF1	chr3:195935055-195935491	K562	blood:	n/a	chr3:195935370-195935383
25	MAX	chr3:195934699-195935638	ECC-1	luminal epithelium:	n/a	chr3:195935244-195935253
26	MXI1	chr3:195934674-195935654	SK-N-SH	brain:	n/a	chr3:195935526-195935535 chr3:195935243-195935252
27	EGR1	chr3:195934920-195935437	K562	blood:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
28	EGR1	chr3:195935024-195935586	ECC-1	luminal epithelium:	n/a	chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
29	EGR1	chr3:195934662-195935436	K562	blood:	n/a	chr3:195934702-195934715 chr3:195934701-195934716 chr3:195935245-195935254 chr3:195935244-195935254 chr3:195935244-195935254
30	E2F6	chr3:195935178-195935402	K562	blood:	n/a	n/a
31	MYC	chr3:195934977-195935516	K562	blood:	n/a	chr3:195935244-195935253
32	E2F6	chr3:195935078-195935392	K562	blood:	n/a	n/a
33	YY1	chr3:195935147-195935419	K562	blood:	n/a	n/a
34	YY1	chr3:195935150-195935538	K562	blood:	n/a	n/a
35	E2F6	chr3:195934701-195935639	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr3:195934708-195935483	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr3:195935086-195935495	H1-hESC	embryonic stem cell:	n/a	chr3:195935244-195935253
38	USF1	chr3:195935132-195935325	SK-N-SH_RA	brain:	n/a	n/a
39	SIN3A	chr3:195935160-195935456	H1-hESC	embryonic stem cell:	n/a	chr3:195935243-195935252
40	MXI1	chr3:195935107-195935423	H1-hESC	embryonic stem cell:	n/a	chr3:195935243-195935252
41	ZBTB7A	chr3:195935059-195935316	K562	blood:	n/a	n/a
42	POLR2A	chr3:195934681-195935546	K562	blood:	n/a	n/a
43	POLR2A	chr3:195935153-195935405	K562	blood:	n/a	n/a
44	SP1	chr3:195934634-195935499	H1-hESC	embryonic stem cell:	n/a	chr3:195935101-195935112 chr3:195934689-195934703 chr3:195935083-195935094
45	TEAD4	chr3:195935142-195935740	K562	blood:	n/a	n/a
46	POLR2A	chr3:195934676-195935524	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr3:195935172-195935431	K562	blood:	n/a	n/a
48	E2F6	chr3:195934753-195935556	K562	blood:	n/a	n/a
49	BHLHE40	chr3:195935191-195935424	K562	blood:	n/a	n/a
50	MAZ	chr3:195934685-195935459	K562	blood:	n/a	chr3:195935244-195935253

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195819342..195820879-chr3:195934319..195935878,2	MCF-7	breast:
3	chr3:195935114..195937817-chr3:195940401..195943040,3	K562	blood:
4	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
5	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
6	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
7	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
8	chr3:195934199..195936662-chr3:196249592..196251250,2	K562	blood:
9	chr3:195928850..195930702-chr3:195933758..195935376,2	K562	blood:
10	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
11	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
12	chr3:195934241..195936316-chr3:196228788..196231012,3	K562	blood:
13	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
14	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
15	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:

Variant related genes	Relation type
SLC51A	TF binding region
ENSG00000072274	Chromatin interaction
ENSG00000252174	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000222335	Chromatin interaction
ENSG00000163959	Chromatin interaction
ENSG00000163961	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
10	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
13	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
14	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
15	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
16	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv878176	chr3:195926234-195959924	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv878177	chr3:195929268-195949541	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	esv3414871	chr3:195933780-195935853	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195933600-195935400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:195933800-195935400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:195933800-195935600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr3:195934000-195935400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:195934000-195935600	Enhancers	Esophagus	oesophagus
6	chr3:195934200-195935400	Active TSS	Duodenum Mucosa	Duodenum
7	chr3:195934200-195935400	Active TSS	A549	lung
8	chr3:195934200-195935600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:195934200-195936200	Enhancers	Lung	lung
10	chr3:195934400-195935400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:195934400-195935400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr3:195934400-195935400	Enhancers	HMEC	breast
13	chr3:195934400-195935600	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:195934400-195935600	Enhancers	Placenta	Placenta
15	chr3:195934400-195935600	Enhancers	Gastric	stomach
16	chr3:195934400-195935600	Enhancers	Pancreas	Pancrea
17	chr3:195934800-195935400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:195934800-195935400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr3:195934800-195935400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr3:195934800-195935400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:195934800-195935400	Enhancers	Spleen	Spleen
22	chr3:195934800-195935600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:195934800-195936800	Enhancers	HepG2	liver
24	chr3:195935000-195935400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:195935000-195935400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:195935000-195935400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:195935000-195935400	Enhancers	Right Ventricle	heart
28	chr3:195935000-195935400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:195935000-195935600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:195935000-195935600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr3:195935000-195936000	Enhancers	Ovary	ovary
32	chr3:195935000-195936200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr3:195935000-195936400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:195935000-195937400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:195935000-195938000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:195935000-195946200	Weak transcription	Right Atrium	heart
37	chr3:195935200-195935400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr3:195935200-195935400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:195935200-195935400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr3:195935200-195935400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:195935200-195935400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:195935200-195935400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr3:195935200-195935400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:195935200-195935400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:195935200-195935400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:195935200-195935400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:195935200-195935400	Enhancers	Fetal Intestine Small	intestine
48	chr3:195935200-195935600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr3:195935200-195935600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:195935200-195935600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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