Variant report

Variant	rs200718632
Chromosome Location	chr3:195934286-195934287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:195934191-195934468	K562	blood:	n/a	n/a
2	E2F6	chr3:195933835-195934450	K562	blood:	n/a	chr3:195934211-195934222
3	MAZ	chr3:195934082-195934438	K562	blood:	n/a	n/a
4	RCOR1	chr3:195934184-195934424	K562	blood:	n/a	n/a
5	CBX3	chr3:195934028-195934433	K562	blood:	n/a	n/a
6	ZBTB7A	chr3:195934036-195934423	K562	blood:	n/a	n/a
7	SP4	chr3:195934008-195934422	H1-hESC	embryonic stem cell:	n/a	n/a
8	HDAC2	chr3:195934154-195934376	K562	blood:	n/a	n/a
9	CTCF	chr3:195934240-195934390	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr3:195934199-195934429	K562	blood:	n/a	n/a
11	IRF1	chr3:195933924-195934471	K562	blood:	n/a	n/a
12	E2F6	chr3:195934072-195934341	K562	blood:	n/a	chr3:195934211-195934222
13	TBP	chr3:195934172-195934494	K562	blood:	n/a	n/a
14	YY1	chr3:195934058-195934432	K562	blood:	n/a	n/a
15	ZBTB7A	chr3:195933974-195934452	ECC-1	luminal epithelium:	n/a	n/a
16	ZBTB7A	chr3:195934075-195934448	K562	blood:	n/a	n/a
17	HMGN3	chr3:195934158-195934389	K562	blood:	n/a	n/a
18	MYC	chr3:195933947-195934416	K562	blood:	n/a	n/a
19	ZBTB7A	chr3:195933761-195934538	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr3:195934242-195934397	K562	blood:	n/a	n/a
21	E2F6	chr3:195933995-195934428	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222
22	CTCF	chr3:195934259-195934397	K562	blood:	n/a	n/a
23	MAX	chr3:195934172-195934421	K562	blood:	n/a	n/a
24	CTCF	chr3:195934213-195934424	K562	blood:	n/a	n/a
25	YY1	chr3:195934208-195934403	K562	blood:	n/a	n/a
26	MAX	chr3:195933737-195934447	K562	blood:	n/a	chr3:195933872-195933887 chr3:195933876-195933886
27	POLR2A	chr3:195934075-195934606	K562	blood:	n/a	n/a
28	HEY1	chr3:195934178-195934388	K562	blood:	n/a	n/a
29	CTCF	chr3:195934200-195934350	HCPEpiC	choroid plexus:	n/a	n/a
30	MAX	chr3:195933937-195934448	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr3:195934173-195934395	K562	blood:	n/a	n/a
32	E2F6	chr3:195934058-195934419	K562	blood:	n/a	chr3:195934211-195934222
33	SMC3	chr3:195934129-195934354	K562	blood:	n/a	n/a
34	RAD21	chr3:195934200-195934344	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:195934163-195934414	ECC-1	luminal epithelium:	n/a	n/a
36	CTCF	chr3:195934192-195934427	K562	blood:	n/a	n/a
37	SIN3A	chr3:195934171-195934370	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr3:195933855-195934404	K562	blood:	n/a	chr3:195934006-195934015
39	TBL1XR1	chr3:195934231-195934360	K562	blood:	n/a	n/a
40	RAD21	chr3:195934173-195934429	K562	blood:	n/a	n/a
41	POLR2A	chr3:195934282-195934413	H1-hESC	embryonic stem cell:	n/a	n/a
42	E2F6	chr3:195933454-195934420	H1-hESC	embryonic stem cell:	n/a	chr3:195934211-195934222
43	BACH1	chr3:195933888-195934343	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr3:195934207-195934363	K562	blood:	n/a	n/a
45	RCOR1	chr3:195934042-195934294	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195933623..195937361-chr3:196062207..196065610,4	K562	blood:
3	chr3:195921230..195923242-chr3:195932657..195935379,3	K562	blood:
4	chr3:195871532..195873508-chr3:195933763..195935660,2	K562	blood:
5	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
6	chr3:195807633..195809874-chr3:195932027..195934415,2	MCF-7	breast:
7	chr3:195934199..195936662-chr3:196249592..196251250,2	K562	blood:
8	chr3:195928850..195930702-chr3:195933758..195935376,2	K562	blood:
9	chr3:195932805..195936731-chr3:195940753..195943412,3	MCF-7	breast:
10	chr3:195932381..195937980-chr3:195939061..195944688,8	K562	blood:
11	chr3:195934241..195936316-chr3:196228788..196231012,3	K562	blood:
12	chr3:195933308..195935063-chr3:196012646..196014729,2	K562	blood:
13	chr3:195785800..195787817-chr3:195933272..195935251,2	K562	blood:
14	chr3:195933778..195935330-chr3:195950925..195952641,2	MCF-7	breast:
15	chr3:195933131..195935157-chr3:196159454..196161102,2	K562	blood:
16	chr3:195807839..195810116-chr3:195932911..195935811,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC51A	TF binding region
ENSG00000222335	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000163961	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000252174	Chromatin interaction
ENSG00000163959	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000273331	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195932800-195934800	Weak transcription	HepG2	liver
2	chr3:195933600-195934400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr3:195933600-195935200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:195933600-195935400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr3:195933800-195934400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr3:195933800-195934400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:195933800-195934400	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr3:195933800-195934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr3:195933800-195934400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
13	chr3:195933800-195934400	ZNF genes & repeats	Spleen	Spleen
14	chr3:195933800-195934400	Bivalent/Poised TSS	NHEK	skin
15	chr3:195933800-195934800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:195933800-195934800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:195933800-195934800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:195933800-195935000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:195933800-195935000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:195933800-195935000	Enhancers	GM12878-XiMat	blood
21	chr3:195933800-195935200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:195933800-195935400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr3:195933800-195935600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:195934000-195934400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:195934000-195934400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr3:195934000-195934400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr3:195934000-195934400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr3:195934000-195934400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr3:195934000-195934400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr3:195934000-195934400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr3:195934000-195934400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:195934000-195934400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:195934000-195934400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:195934000-195934400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:195934000-195934400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:195934000-195934400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr3:195934000-195934400	Flanking Active TSS	Colonic Mucosa	Colon
44	chr3:195934000-195934400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr3:195934000-195934400	Flanking Active TSS	Placenta	Placenta
46	chr3:195934000-195934400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr3:195934000-195934400	Flanking Active TSS	Ovary	ovary
48	chr3:195934000-195934400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr3:195934000-195934400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr3:195934000-195934400	Flanking Active TSS	HMEC	breast

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