Variant report

Variant	rs11947617
Chromosome Location	chr4:106149006-106149007
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106066247..106068119-chr4:106148924..106151685,2	MCF-7	breast:
2	chr4:106140728..106143499-chr4:106146787..106149760,3	MCF-7	breast:
3	chr4:106148051..106150372-chr4:106152315..106153818,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10003144	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10006721	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008189	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10017522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018267	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10022126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022891	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023701	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10026237	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027791	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932794	0.97[ASN][1000 genomes]
rs11938493	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11941838	1.00[ASN][1000 genomes]
rs11943394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944085	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505746	0.89[ASN][1000 genomes]
rs2017763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28394039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655620	0.82[ASN][1000 genomes]
rs28707121	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235413	0.92[ASN][1000 genomes]
rs55793049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58862751	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59339947	0.95[ASN][1000 genomes]
rs59806714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886348	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831247	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833560	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6835030	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843141	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6857812	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955198	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73836047	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836048	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836052	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73836055	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73838074	1.00[ASN][1000 genomes]
rs7662448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696287	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698398	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7700148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931653	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9985622	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9993497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9997323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9998069	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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2597001	chr4:106147647-106149146	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106106200-106155000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:106113000-106154800	Weak transcription	Fetal Thymus	thymus
3	chr4:106113600-106173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:106114400-106155200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:106114600-106155600	Weak transcription	Esophagus	oesophagus
7	chr4:106118000-106155400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:106118800-106155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:106118800-106155200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:106127600-106155000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:106127600-106155400	Weak transcription	Placenta	Placenta
12	chr4:106127800-106155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:106127800-106155200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:106128000-106154000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:106131800-106155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:106132000-106153200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:106132400-106154600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:106133400-106155000	Weak transcription	Fetal Lung	lung
19	chr4:106133800-106155000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:106135200-106155000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:106135200-106155000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:106136000-106155000	Weak transcription	Fetal Stomach	stomach
23	chr4:106136000-106157400	Weak transcription	Right Ventricle	heart
24	chr4:106136400-106155000	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:106136800-106155200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:106137000-106155200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:106137400-106155200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:106137600-106155000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:106137600-106155400	Weak transcription	HSMM	muscle
30	chr4:106137600-106155600	Weak transcription	Fetal Intestine Small	intestine
31	chr4:106137800-106155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:106137800-106155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:106138200-106155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:106138400-106155200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:106139000-106155200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:106139200-106155200	Weak transcription	Fetal Intestine Large	intestine
37	chr4:106140000-106155000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:106141000-106155600	Weak transcription	Gastric	stomach
39	chr4:106142000-106155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:106142000-106155400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:106142000-106190800	Weak transcription	Small Intestine	intestine
42	chr4:106145600-106155200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:106145600-106155200	Weak transcription	Fetal Kidney	kidney
44	chr4:106145600-106155200	Weak transcription	Ovary	ovary
45	chr4:106145600-106155400	Weak transcription	Fetal Brain Female	brain
46	chr4:106145600-106155600	Weak transcription	Brain Substantia Nigra	brain
47	chr4:106145600-106167400	Weak transcription	NHDF-Ad	bronchial
48	chr4:106145800-106155200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:106145800-106155600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:106145800-106155800	Weak transcription	Brain Anterior Caudate	brain

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