Variant report

Variant	rs2086358
Chromosome Location	chr3:195638506-195638507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:195638164-195639233	MCF-7	breast:	n/a	n/a
2	ESR1	chr3:195638171-195638677	T-47D	breast:	n/a	n/a
3	GATA3	chr3:195638097-195638846	T-47D	breast:	n/a	chr3:195638635-195638645
4	GATA3	chr3:195637723-195639051	T-47D	breast:	n/a	chr3:195638635-195638645
5	ESR1	chr3:195638115-195638713	T-47D	breast:	n/a	n/a
6	ESR1	chr3:195638104-195638731	T-47D	breast:	n/a	n/a
7	POLR2A	chr3:195638465-195639113	MCF-7	breast:	n/a	n/a
8	GATA3	chr3:195638053-195638832	MCF-7	breast:	n/a	chr3:195638635-195638645
9	HDAC2	chr3:195638138-195639051	MCF-7	breast:	n/a	n/a
10	FOXA1	chr3:195638162-195638617	T-47D	breast:	n/a	n/a
11	HA-E2F1	chr3:195638159-195638772	MCF-7	breast:	n/a	n/a
12	NR2F2	chr3:195638126-195639070	MCF-7	breast:	n/a	n/a
13	ESR1	chr3:195638132-195638675	T-47D	breast:	n/a	n/a
14	EP300	chr3:195638121-195638677	T-47D	breast:	n/a	n/a
15	ESR1	chr3:195638135-195638651	T-47D	breast:	n/a	n/a
16	EP300	chr3:195638061-195639125	T-47D	breast:	n/a	n/a
17	FOXA1	chr3:195638186-195638616	T-47D	breast:	n/a	n/a
18	GATA3	chr3:195638237-195638628	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59476078..59478218-chr3:195637161..195639509,2	MCF-7	breast:
2	chr3:195597554..195599890-chr3:195637000..195638524,2	MCF-7	breast:
3	chr3:195602309..195605964-chr3:195633937..195639111,7	MCF-7	breast:
4	chr3:195579215..195581833-chr3:195637238..195640211,2	MCF-7	breast:
5	chr3:195637057..195638847-chr3:195869239..195872107,2	MCF-7	breast:
6	chr3:195635569..195638518-chr3:195807424..195810696,3	MCF-7	breast:
7	chr3:195634985..195639388-chr3:195640414..195643668,6	K562	blood:
8	chr3:195589853..195591582-chr3:195636722..195638676,2	K562	blood:
9	chr3:195636473..195638760-chr3:195679951..195681488,2	MCF-7	breast:
10	chr3:195601763..195604584-chr3:195636723..195640516,3	K562	blood:

No data

Variant related genes	Relation type
TNK2	TF binding region
ENSG00000226155	TF binding region
ENSG00000061938	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000224652	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000273009	Chromatin interaction
ENSG00000223783	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57820533	0.88[AFR][1000 genomes]
rs6762607	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv1001387	chr3:195186128-195661538	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv1006217	chr3:195312401-195643229	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
6	nsv536882	chr3:195312401-195643229	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer 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 miRNA	38 gene(s)	inside rSNPs	diseases
7	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
8	nsv1006165	chr3:195383130-195777211	Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
9	nsv471621	chr3:195417664-195795474	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv2751988	chr3:195433543-195651349	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
11	esv2756651	chr3:195433543-195696720	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
12	nsv432528	chr3:195433543-195696720	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
13	esv2754016	chr3:195433543-195753766	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
14	nsv822410	chr3:195438740-195725565	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
15	nsv878162	chr3:195475989-195641908	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
16	nsv878163	chr3:195477791-195641908	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
17	nsv997893	chr3:195501392-195642192	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1005193	chr3:195526571-195709662	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv878168	chr3:195553259-195644332	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
20	nsv1002591	chr3:195564086-195643229	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 miRNA	19 gene(s)	inside rSNPs	diseases
21	nsv530397	chr3:195565159-195740416	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
22	nsv593056	chr3:195571024-195656731	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1007235	chr3:195582468-195651911	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Weak transcription 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	17 gene(s)	inside rSNPs	diseases
24	nsv1002629	chr3:195582468-195769275	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
25	nsv1014602	chr3:195606770-195661538	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
26	nsv829827	chr3:195608866-195760829	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
27	nsv469518	chr3:195623722-195795474	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
28	nsv482784	chr3:195623722-195795474	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
29	nsv1011404	chr3:195627654-195656614	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195637000-195641600	Weak transcription	Pancreas	Pancrea
2	chr3:195637000-195641600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:195637000-195641600	Weak transcription	NHDF-Ad	bronchial
4	chr3:195637200-195638600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:195637200-195638600	Enhancers	Liver	Liver
6	chr3:195637200-195639000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:195637200-195639200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:195637200-195641400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:195637200-195641400	Weak transcription	HSMMtube	muscle
10	chr3:195637200-195641600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:195637200-195641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:195637200-195641600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:195637200-195641600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:195637200-195641600	Weak transcription	Fetal Heart	heart
15	chr3:195637200-195641600	Weak transcription	HSMM	muscle
16	chr3:195637200-195641600	Weak transcription	HUVEC	blood vessel
17	chr3:195637200-195641600	Weak transcription	NH-A	brain
18	chr3:195637200-195641800	Weak transcription	Primary T cells from cord blood	blood
19	chr3:195637200-195643800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:195637400-195638600	Weak transcription	A549	lung
21	chr3:195637400-195638600	Enhancers	Hela-S3	cervix
22	chr3:195637400-195638800	Weak transcription	Osteobl	bone
23	chr3:195637400-195639200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:195637400-195639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:195637400-195639400	Enhancers	Placenta	Placenta
26	chr3:195637400-195639600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:195637400-195641400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:195637400-195641400	Weak transcription	Adipose Nuclei	Adipose
29	chr3:195637400-195641400	Weak transcription	Brain Anterior Caudate	brain
30	chr3:195637400-195641400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:195637400-195641400	Weak transcription	Fetal Lung	lung
32	chr3:195637400-195641400	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:195637400-195641400	Weak transcription	Right Ventricle	heart
34	chr3:195637400-195641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:195637400-195641600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr3:195637400-195641600	Weak transcription	Primary B cells from cord blood	blood
37	chr3:195637400-195641600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:195637400-195641600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:195637400-195641600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:195637400-195641600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:195637400-195641600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:195637400-195641600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:195637400-195641600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:195637400-195641600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:195637400-195641600	Weak transcription	Brain Angular Gyrus	brain
46	chr3:195637400-195641600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:195637400-195641600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:195637400-195641600	Weak transcription	Fetal Intestine Large	intestine
49	chr3:195637400-195641600	Weak transcription	Left Ventricle	heart
50	chr3:195637400-195641600	Weak transcription	Rectal Smooth Muscle	rectum

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