Variant report

Variant	rs7949291
Chromosome Location	chr11:63636476-63636477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:63636451-63637089	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:63636398-63636522	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
2	chr11:63604982..63606649-chr11:63633551..63637040,3	K562	blood:
3	chr11:63610591..63619595-chr11:63634759..63639809,13	MCF-7	breast:
4	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
5	chr11:63604248..63606622-chr11:63634947..63637040,3	K562	blood:

No data

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10897457	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231605	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231615	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231620	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231621	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231630	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231674	1.00[CHB][hapmap]
rs1188017	1.00[CHB][hapmap]
rs3850942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530399	1.00[CHB][hapmap]
rs540741	1.00[CHB][hapmap]
rs61886103	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886104	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886106	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886131	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886132	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886133	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61886134	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933791	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952270	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947843	1.00[CHB][hapmap]
rs958333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735314	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:63619400-63639400	Weak transcription	Ovary	ovary
3	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:63626400-63637800	Weak transcription	NH-A	brain
5	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
7	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:63630800-63637000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr11:63630800-63637400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:63630800-63637600	Weak transcription	Aorta	Aorta
13	chr11:63630800-63639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63630800-63641600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:63632200-63637400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:63632400-63637000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:63632400-63638800	Genic enhancers	Fetal Thymus	thymus
18	chr11:63632400-63642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:63632400-63643400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:63632400-63643600	Enhancers	Pancreas	Pancrea
21	chr11:63632600-63637200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:63632600-63639400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:63632600-63640800	Enhancers	Placenta	Placenta
24	chr11:63633000-63639200	Weak transcription	HepG2	liver
25	chr11:63633000-63639800	Enhancers	Fetal Heart	heart
26	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
28	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
29	chr11:63633400-63636600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr11:63633600-63637200	Weak transcription	NHLF	lung
31	chr11:63634000-63637000	Weak transcription	A549	lung
32	chr11:63634200-63637400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:63634200-63637400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:63634200-63637400	Weak transcription	Fetal Brain Male	brain
35	chr11:63634200-63642400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr11:63634400-63637200	Enhancers	Gastric	stomach
37	chr11:63634600-63636800	Genic enhancers	Primary B cells from cord blood	blood
38	chr11:63634600-63637000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:63634600-63637200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:63634600-63637200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:63634600-63638200	Genic enhancers	GM12878-XiMat	blood
42	chr11:63634800-63637000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:63634800-63637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:63634800-63638200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:63634800-63639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:63635200-63636600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:63635200-63639000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:63635400-63636800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:63635400-63637000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:63635400-63637200	Weak transcription	Osteobl	bone

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