Variant report

Variant	rs3746281
Chromosome Location	chr19:36204158-36204159
allele	C/T
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	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
3	RELA	chr19:36203418-36204555	GM18505	blood:	n/a	n/a
4	CTCF	chr19:36204042-36204213	GM12878	blood:	n/a	n/a
5	STAT5A	chr19:36203130-36204970	GM12878	blood:	n/a	chr19:36203432-36203443 chr19:36203458-36203470 chr19:36204460-36204472 chr19:36203739-36203751
6	TAF1	chr19:36204149-36204599	GM12891	blood:	n/a	n/a
7	POLR2A	chr19:36203844-36205008	Raji	blood:	n/a	n/a
8	POLR2A	chr19:36203571-36204601	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
10	PBX3	chr19:36203993-36204441	GM12878	blood:	n/a	n/a
11	NFYB	chr19:36204036-36204471	GM12878	blood:	n/a	n/a
12	PBX3	chr19:36204092-36204352	GM12878	blood:	n/a	n/a
13	NFIC	chr19:36203264-36204178	GM12878	blood:	n/a	n/a
14	WRNIP1	chr19:36203485-36205570	GM12878	blood:	n/a	n/a
15	STAT3	chr19:36203449-36204261	GM12878	blood:	n/a	chr19:36203458-36203470 chr19:36203555-36203576 chr19:36203739-36203751
16	SMC3	chr19:36203894-36204578	GM12878	blood:	n/a	n/a
17	POU2F2	chr19:36203398-36204619	GM12891	blood:	n/a	n/a
18	SIN3A	chr19:36203496-36204595	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:36203738-36204576	GM12878	blood:	n/a	n/a
20	YY1	chr19:36203570-36204386	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:36203535-36204579	GM18505	blood:	n/a	n/a
22	POLR2A	chr19:36203492-36205805	GM12892	blood:	n/a	n/a
23	POLR2A	chr19:36203737-36204571	GM18526	blood:	n/a	n/a
24	CREB1	chr19:36203273-36204625	GM12878	blood:	n/a	n/a
25	BATF	chr19:36203117-36204311	GM12878	blood:	n/a	chr19:36203666-36203677 chr19:36203667-36203677
26	BATF	chr19:36203447-36204215	GM12878	blood:	n/a	chr19:36203666-36203677 chr19:36203667-36203677
27	POU2F2	chr19:36203420-36204640	GM12878	blood:	n/a	n/a
28	ATF2	chr19:36203295-36204423	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:36203433-36204642	GM19099	blood:	n/a	n/a
30	CEBPB	chr19:36203174-36204332	GM12878	blood:	n/a	n/a
31	ATF2	chr19:36203263-36204517	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:36202895-36208735	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:36204000-36204575	GM12878	blood:	n/a	n/a
34	RFX5	chr19:36203904-36204318	GM12878	blood:	n/a	n/a
35	CHD1	chr19:36203464-36204920	GM12878	blood:	n/a	n/a
36	EBF1	chr19:36203310-36204545	GM12878	blood:	n/a	chr19:36203523-36203534
37	PAX5	chr19:36203422-36204633	GM12878	blood:	n/a	chr19:36203535-36203544 chr19:36203532-36203541
38	POLR2A	chr19:36203628-36204554	GM12892	blood:	n/a	n/a
39	BCLAF1	chr19:36203641-36204678	GM12878	blood:	n/a	n/a
40	TAF1	chr19:36203955-36204534	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:36203580-36208801	GM12891	blood:	n/a	n/a
42	IRF4	chr19:36203388-36204493	GM12878	blood:	n/a	n/a
43	SP1	chr19:36203426-36204535	GM12878	blood:	n/a	chr19:36203643-36203650 chr19:36204463-36204472 chr19:36203739-36203753
44	IKZF1	chr19:36203463-36205250	GM12878	blood:	n/a	n/a
45	POU2F2	chr19:36203543-36204165	GM12878	blood:	n/a	n/a
46	NFIC	chr19:36203251-36204517	GM12878	blood:	n/a	n/a
47	MAZ	chr19:36203408-36204852	GM12878	blood:	n/a	n/a
48	MXI1	chr19:36203558-36205262	GM12878	blood:	n/a	n/a
49	ELK1	chr19:36203750-36204534	GM12878	blood:	n/a	n/a
50	CUX1	chr19:36203396-36204614	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36203511..36205032-chr19:36208383..36210782,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB32-2	chr19:36203819-36204307	ENSG00000239352.1
2	lnc-ZBTB32-2	chr19:36203819-36204444	ENSG00000241762.1

Variant related genes	Relation type
ENSG00000272333	TF binding region
KMT2B	TF binding region
ZBTB32	TF binding region
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs120960	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs2272538	0.98[AFR][1000 genomes]
rs231236	0.91[YRI][hapmap]
rs34014681	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8110675	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36194000-36206600	Weak transcription	Brain Angular Gyrus	brain
2	chr19:36194000-36206800	Weak transcription	Right Atrium	heart
3	chr19:36194000-36206800	Weak transcription	Osteobl	bone
4	chr19:36194600-36206200	Weak transcription	Right Ventricle	heart
5	chr19:36195400-36206600	Weak transcription	Gastric	stomach
6	chr19:36198000-36205400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:36201200-36206600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:36201200-36207000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:36201400-36204200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:36201400-36206400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr19:36201600-36204800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:36201600-36206000	Enhancers	Spleen	Spleen
13	chr19:36201600-36207000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:36201600-36207200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:36201800-36206800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:36202000-36204600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:36202200-36204200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr19:36202200-36204200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:36202200-36206400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:36202200-36206400	Weak transcription	Brain Anterior Caudate	brain
21	chr19:36202200-36207000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:36202400-36206200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:36202400-36206400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:36202600-36205400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:36202600-36205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:36202600-36205800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:36202600-36205800	Weak transcription	Colonic Mucosa	Colon
28	chr19:36202600-36206000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:36202600-36206200	Weak transcription	Esophagus	oesophagus
30	chr19:36202600-36206200	Weak transcription	A549	lung
31	chr19:36202600-36206400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:36202600-36206600	Weak transcription	NHEK	skin
33	chr19:36203200-36204200	Flanking Active TSS	GM12878-XiMat	blood
34	chr19:36203200-36207400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr19:36203400-36204200	Enhancers	HepG2	liver
36	chr19:36203600-36204400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:36203600-36204800	Enhancers	K562	blood
38	chr19:36203600-36207600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr19:36203800-36204200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:36203800-36205800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr19:36204000-36204200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36204000-36204400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr19:36204000-36204400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr19:36204000-36204600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr19:36204000-36204600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr19:36204000-36204600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:36204000-36205000	Enhancers	Fetal Thymus	thymus
48	chr19:36204000-36205400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr19:36204000-36206000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:36204000-36206000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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