Variant report

Variant	rs7948681
Chromosome Location	chr11:63635993-63635994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10897460	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11231632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11231665	0.80[YRI][hapmap]
rs11231673	0.84[YRI][hapmap]
rs12099085	0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12271959	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12277386	1.00[EUR][1000 genomes]
rs12277838	1.00[EUR][1000 genomes]
rs12288290	1.00[EUR][1000 genomes]
rs12291042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295918	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13377315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17403349	0.82[ASW][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap]
rs320110	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs320115	1.00[TSI][hapmap]
rs57219930	1.00[EUR][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59642000	1.00[EUR][1000 genomes]
rs60107756	1.00[EUR][1000 genomes]
rs61475860	1.00[EUR][1000 genomes]
rs684865	1.00[TSI][hapmap]
rs7110433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123788	1.00[TSI][hapmap]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	0.82[ASW][hapmap];0.83[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7952003	1.00[ASW][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
rs9804541	1.00[TSI][hapmap]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[EUR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:63619400-63639400	Weak transcription	Ovary	ovary
6	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
8	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:63626400-63637800	Weak transcription	NH-A	brain
10	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
11	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
12	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
13	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:63630600-63636000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:63630600-63636000	Weak transcription	NHDF-Ad	bronchial
18	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:63630800-63636000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:63630800-63636000	Weak transcription	Brain Germinal Matrix	brain
21	chr11:63630800-63636000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:63630800-63637000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:63630800-63637400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:63630800-63637600	Weak transcription	Aorta	Aorta
25	chr11:63630800-63639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:63630800-63641600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:63632200-63637400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:63632400-63636000	Enhancers	Thymus	Thymus
29	chr11:63632400-63637000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:63632400-63638800	Genic enhancers	Fetal Thymus	thymus
31	chr11:63632400-63642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:63632400-63643400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:63632400-63643600	Enhancers	Pancreas	Pancrea
34	chr11:63632600-63636000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:63632600-63636000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:63632600-63636200	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:63632600-63637200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:63632600-63639400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:63632600-63640800	Enhancers	Placenta	Placenta
40	chr11:63632800-63636000	Enhancers	Brain Anterior Caudate	brain
41	chr11:63632800-63636200	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:63633000-63636000	Weak transcription	Lung	lung
43	chr11:63633000-63639200	Weak transcription	HepG2	liver
44	chr11:63633000-63639800	Enhancers	Fetal Heart	heart
45	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
47	chr11:63633200-63636000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
49	chr11:63633400-63636000	Weak transcription	Colonic Mucosa	Colon
50	chr11:63633400-63636000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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