Variant report

Variant	rs11186857
Chromosome Location	chr10:93971501-93971502
allele	A/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	chr10:93970855-93971766	GM12878	blood:	n/a	n/a
2	GATA3	chr10:93970692-93971551	SK-N-SH	brain:	n/a	n/a
3	FOXM1	chr10:93970920-93971604	ECC-1	luminal epithelium:	n/a	n/a
4	EBF1	chr10:93971350-93971691	GM12878	blood:	n/a	n/a
5	NFIC	chr10:93970702-93971636	ECC-1	luminal epithelium:	n/a	n/a
6	SP1	chr10:93970953-93971600	GM12878	blood:	n/a	n/a
7	FOSL1	chr10:93970938-93971505	HCT-116	colon:	n/a	chr10:93971193-93971201 chr10:93971193-93971200 chr10:93971193-93971201
8	CEBPB	chr10:93970829-93971504	HCT-116	colon:	n/a	n/a
9	TCF12	chr10:93970888-93971618	ECC-1	luminal epithelium:	n/a	n/a
10	FOXM1	chr10:93970677-93971637	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr10:93970809-93971538	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr10:93970817-93971510	SK-N-SH	brain:	n/a	n/a
13	RUNX3	chr10:93970839-93971714	GM12878	blood:	n/a	n/a
14	SP1	chr10:93970852-93971509	HCT-116	colon:	n/a	n/a
15	GATA3	chr10:93970752-93971505	SK-N-SH	brain:	n/a	n/a
16	PAX5	chr10:93971130-93971505	GM12878	blood:	n/a	n/a
17	MEF2A	chr10:93970917-93971570	GM12878	blood:	n/a	chr10:93971193-93971201
18	JUND	chr10:93970834-93971508	HCT-116	colon:	n/a	chr10:93971193-93971201 chr10:93971193-93971200 chr10:93971193-93971201
19	EP300	chr10:93970778-93971641	ECC-1	luminal epithelium:	n/a	chr10:93971193-93971202
20	NFIC	chr10:93970698-93971701	GM12878	blood:	n/a	n/a
21	JUND	chr10:93970942-93971508	HCT-116	colon:	n/a	chr10:93971193-93971201 chr10:93971193-93971200 chr10:93971193-93971201
22	NFIC	chr10:93970793-93971511	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr10:93970755-93971617	ECC-1	luminal epithelium:	n/a	n/a
24	RUNX3	chr10:93970934-93971676	GM12878	blood:	n/a	n/a
25	PAX5	chr10:93971007-93971668	GM12878	blood:	n/a	n/a
26	TCF12	chr10:93970798-93971508	SK-N-SH	brain:	n/a	n/a
27	EP300	chr10:93970867-93971546	ECC-1	luminal epithelium:	n/a	chr10:93971193-93971202
28	FOSL2	chr10:93970850-93971506	SK-N-SH	brain:	n/a	chr10:93971193-93971201 chr10:93971193-93971200 chr10:93971193-93971201

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93969866..93972797-chr10:93997351..93999951,2	MCF-7	breast:

Variant related genes	Relation type
NHP2P1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1034076	0.86[AFR][1000 genomes]
rs11186889	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243966	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251266	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12259277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12260687	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12263606	0.93[AFR][1000 genomes]
rs1329216	0.86[AFR][1000 genomes]
rs1711841	1.00[AMR][1000 genomes]
rs1935866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2026054	0.86[AFR][1000 genomes]
rs2767653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2797641	1.00[AMR][1000 genomes]
rs2797646	1.00[AMR][1000 genomes]
rs2798255	0.86[AFR][1000 genomes]
rs6583809	0.86[AFR][1000 genomes]
rs701845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs701847	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833379	1.00[AMR][1000 genomes]
rs833381	1.00[AMR][1000 genomes]
rs833382	1.00[AMR][1000 genomes]
rs855700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs855705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs855711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs855712	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs855713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs855714	1.00[AMR][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	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	esv2761614	chr10:93960695-93981177	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93926400-93976000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:93926600-93976000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:93926800-93982400	Weak transcription	HSMMtube	muscle
4	chr10:93927200-93980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:93927400-93997800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:93929200-93984800	Weak transcription	Fetal Intestine Small	intestine
7	chr10:93934200-93976200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:93958400-93981000	Weak transcription	Psoas Muscle	Psoas
9	chr10:93959000-93985800	Weak transcription	Brain Substantia Nigra	brain
10	chr10:93960800-93976000	Weak transcription	Gastric	stomach
11	chr10:93961000-93990800	Weak transcription	Spleen	Spleen
12	chr10:93961600-93972200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:93962000-93976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:93963000-93976400	Weak transcription	Aorta	Aorta
15	chr10:93964200-93976200	Weak transcription	Right Ventricle	heart
16	chr10:93964200-93993000	Weak transcription	Fetal Brain Female	brain
17	chr10:93964200-93996000	Weak transcription	Brain Germinal Matrix	brain
18	chr10:93964200-93997600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:93964400-93982400	Weak transcription	HSMM	muscle
20	chr10:93966400-93986200	Weak transcription	Ovary	ovary
21	chr10:93967400-93986200	Weak transcription	Fetal Heart	heart
22	chr10:93967600-93986200	Weak transcription	Left Ventricle	heart
23	chr10:93967600-93990800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:93968400-93997000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:93968600-93989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:93968800-93978000	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:93968800-93979400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:93969200-93982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:93969200-93997800	Weak transcription	Pancreas	Pancrea
30	chr10:93969200-93998600	Weak transcription	Lung	lung
31	chr10:93969600-93997800	Weak transcription	Esophagus	oesophagus
32	chr10:93969800-93971600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:93970000-93974200	Enhancers	GM12878-XiMat	blood
34	chr10:93970800-93971600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:93970800-93971600	Enhancers	HMEC	breast
36	chr10:93971000-93971600	Active TSS	Adipose Nuclei	Adipose
37	chr10:93971000-93990800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:93971200-93971600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:93971200-93971600	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:93971200-93971600	Active TSS	Primary T cells fromperipheralblood	blood
41	chr10:93971200-93971600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:93971200-93971600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr10:93971200-93971600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:93971200-93971600	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr10:93971200-93971600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:93971200-93971600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:93971200-93971600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr10:93971200-93971600	Active TSS	Right Atrium	heart
49	chr10:93971200-93971800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr10:93971200-93972000	Active TSS	Primary T helper cells fromperipheralblood	blood

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