Variant report

Variant	rs4980507
Chromosome Location	chr11:63642465-63642466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63640265..63644644-chr11:63645471..63647891,3	MCF-7	breast:
2	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
3	chr11:63533785..63536381-chr11:63639812..63642533,2	MCF-7	breast:
4	chr11:63628759..63635867-chr11:63636847..63643133,8	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction
ENSG00000255651	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10736731	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751001	0.87[ASN][1000 genomes]
rs10792421	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792422	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10792423	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897452	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897453	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897454	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231600	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11231606	0.84[EUR][1000 genomes]
rs11231624	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11231628	0.95[ASN][1000 genomes]
rs11231637	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11231640	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11605500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12277481	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576275	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486936	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1872772	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2840079	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs320109	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3802941	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3850943	0.87[ASN][1000 genomes]
rs4143327	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4963433	0.87[ASN][1000 genomes]
rs4980503	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980505	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980528	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980529	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980532	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980533	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61604723	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6421686	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6591825	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7102006	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105288	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7108375	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118913	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121067	0.86[EUR][1000 genomes]
rs72934134	0.83[AFR][1000 genomes]
rs7937314	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939351	0.82[EUR][1000 genomes]
rs7939416	0.82[ASN][1000 genomes]
rs7944519	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7946503	0.82[EUR][1000 genomes]
rs7948656	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs923247	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928948	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
2	chr11:63632400-63642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:63632400-63643400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:63632400-63643600	Enhancers	Pancreas	Pancrea
5	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
7	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
8	chr11:63636000-63642600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:63636000-63644800	Enhancers	Brain Angular Gyrus	brain
10	chr11:63636400-63643000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:63637000-63643200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:63637200-63643000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:63637600-63643600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:63637600-63647000	Strong transcription	Dnd41	blood
15	chr11:63637800-63653200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:63639000-63643200	Enhancers	Fetal Intestine Large	intestine
17	chr11:63639200-63643400	Enhancers	Gastric	stomach
18	chr11:63639200-63643600	Enhancers	Stomach Mucosa	stomach
19	chr11:63639400-63643200	Enhancers	Lung	lung
20	chr11:63639400-63643600	Enhancers	Ovary	ovary
21	chr11:63639400-63645600	Enhancers	Right Atrium	heart
22	chr11:63640000-63642600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:63640000-63644600	Enhancers	Brain Cingulate Gyrus	brain
24	chr11:63640000-63645200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:63640000-63647800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:63640200-63642600	Enhancers	Adipose Nuclei	Adipose
27	chr11:63640200-63642600	Enhancers	Brain Anterior Caudate	brain
28	chr11:63640200-63642800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:63640200-63643000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:63640200-63643600	Strong transcription	Thymus	Thymus
31	chr11:63640200-63645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:63640200-63645200	Weak transcription	Brain Germinal Matrix	brain
33	chr11:63640200-63645600	Enhancers	Left Ventricle	heart
34	chr11:63640200-63646200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:63640200-63646400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:63640200-63647000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:63640200-63647000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:63640200-63647000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:63640200-63647000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:63640200-63647000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:63640200-63647000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:63640200-63647000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:63640200-63647000	Weak transcription	NH-A	brain
44	chr11:63640600-63647000	Weak transcription	Fetal Brain Male	brain
45	chr11:63640800-63644000	Genic enhancers	Placenta	Placenta
46	chr11:63640800-63644400	Strong transcription	Hela-S3	cervix
47	chr11:63640800-63645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:63640800-63645200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:63640800-63645200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:63640800-63645600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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