Variant report

Variant	rs3750951
Chromosome Location	chr11:93257438-93257439
allele	A/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	MAFK	chr11:93256713-93258487	GM12878	blood:	n/a	chr11:93257158-93257173 chr11:93256904-93256919
2	SPI1	chr11:93256623-93257501	GM12878	blood:	n/a	n/a
3	CHD1	chr11:93256962-93257844	GM12878	blood:	n/a	n/a
4	NFIC	chr11:93256687-93257783	GM12878	blood:	n/a	n/a
5	NFIC	chr11:93256823-93257726	GM12878	blood:	n/a	n/a
6	EBF1	chr11:93257253-93257676	GM12878	blood:	n/a	chr11:93257641-93257651 chr11:93257505-93257516
7	STAT3	chr11:93256990-93257698	GM12878	blood:	n/a	chr11:93257157-93257169 chr11:93257532-93257543 chr11:93257023-93257030 chr11:93257035-93257055
8	TBP	chr11:93256949-93257752	GM12878	blood:	n/a	n/a
9	EBF1	chr11:93257285-93257722	GM12878	blood:	n/a	chr11:93257641-93257651 chr11:93257505-93257516
10	ZNF143	chr11:93257349-93257630	GM12878	blood:	n/a	n/a
11	IKZF1	chr11:93256938-93257821	GM12878	blood:	n/a	n/a
12	RUNX3	chr11:93256631-93257933	GM12878	blood:	n/a	n/a
13	STAT1	chr11:93257430-93257729	GM12878	blood:	n/a	chr11:93257532-93257543
14	ZNF384	chr11:93257224-93257490	GM12878	blood:	n/a	n/a
15	CUX1	chr11:93256876-93257702	GM12878	blood:	n/a	n/a
16	ATF2	chr11:93256911-93257752	GM12878	blood:	n/a	n/a
17	RUNX3	chr11:93256636-93257671	GM12878	blood:	n/a	n/a
18	FOXA1	chr11:93257344-93257608	T-47D	breast:	n/a	n/a
19	EBF1	chr11:93256836-93257777	GM12878	blood:	n/a	chr11:93257641-93257651 chr11:93257505-93257516
20	RCOR1	chr11:93256981-93258157	GM12878	blood:	n/a	n/a
21	MTA3	chr11:93256692-93257975	GM12878	blood:	n/a	n/a
22	SMC3	chr11:93256941-93257597	GM12878	blood:	n/a	n/a
23	BHLHE40	chr11:93256805-93257825	GM12878	blood:	n/a	n/a
24	EP300	chr11:93257027-93257685	GM12878	blood:	n/a	chr11:93257288-93257296
25	MAX	chr11:93256881-93257801	GM12878	blood:	n/a	n/a
26	WRNIP1	chr11:93257073-93258044	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93256846..93259343-chr11:93261721..93264520,2	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10831050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11020369	1.00[AMR][1000 genomes]
rs11020372	1.00[AMR][1000 genomes]
rs11020375	1.00[AMR][1000 genomes]
rs11020376	1.00[AMR][1000 genomes]
rs11020380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11020381	0.82[ASN][1000 genomes]
rs11020385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11020386	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs11020391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11020397	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020398	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020399	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020400	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020401	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11020402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:93235400-93257800	Weak transcription	Gastric	stomach
3	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
4	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
5	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
6	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:93249200-93257600	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:93249200-93257600	Weak transcription	Placenta	Placenta
9	chr11:93249200-93257800	Weak transcription	Right Atrium	heart
10	chr11:93251000-93258200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:93251000-93261400	Weak transcription	Fetal Brain Male	brain
12	chr11:93251000-93261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:93251000-93261600	Weak transcription	Aorta	Aorta
14	chr11:93252000-93266800	Enhancers	Fetal Thymus	thymus
15	chr11:93252200-93259000	Enhancers	Liver	Liver
16	chr11:93252200-93260800	Enhancers	Dnd41	blood
17	chr11:93252600-93259800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:93253000-93258800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:93253400-93257600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:93253400-93257600	Weak transcription	Stomach Mucosa	stomach
21	chr11:93253800-93266200	Weak transcription	Fetal Brain Female	brain
22	chr11:93254800-93258000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:93254800-93258200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:93255000-93258200	Weak transcription	Primary T cells from cord blood	blood
25	chr11:93255000-93259200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:93255000-93263600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:93255000-93274600	Weak transcription	Hela-S3	cervix
28	chr11:93255200-93257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:93255600-93257600	Weak transcription	HepG2	liver
30	chr11:93255600-93262200	Weak transcription	Brain Germinal Matrix	brain
31	chr11:93255800-93258200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:93255800-93261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:93255800-93262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:93255800-93263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:93256000-93257600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:93256000-93257600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:93256000-93257600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:93256000-93258200	Weak transcription	Brain Substantia Nigra	brain
39	chr11:93256000-93262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:93256200-93257600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:93256200-93257800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:93256200-93257800	Weak transcription	Pancreas	Pancrea
43	chr11:93256200-93258400	Enhancers	Spleen	Spleen
44	chr11:93256200-93263800	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:93256200-93266000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:93256400-93257600	Weak transcription	Right Ventricle	heart
47	chr11:93256400-93257800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:93256400-93266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:93256600-93257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:93256600-93259000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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