Variant report

Variant	rs2060636
Chromosome Location	chr7:112574804-112574805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112570140..112571733-chr7:112574032..112575624,2	MCF-7	breast:
2	chr7:112567908..112571735-chr7:112573454..112577571,5	K562	blood:
3	chr7:112573321..112577054-chr7:112577795..112579743,3	MCF-7	breast:
4	chr7:112571595..112576462-chr7:112578042..112581629,5	K562	blood:
5	chr7:112568119..112570873-chr7:112572834..112576216,3	K562	blood:
6	chr7:112572451..112576554-chr7:112577606..112581237,7	MCF-7	breast:
7	chr7:112565275..112568159-chr7:112573101..112575582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10227777	1.00[EUR][1000 genomes]
rs10228144	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229725	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10232962	1.00[CHB][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241709	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265199	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268162	1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277252	1.00[EUR][1000 genomes]
rs10500013	1.00[CHB][hapmap]
rs12112310	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12112671	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159980	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17160084	1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868588	1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28546198	1.00[ASN][1000 genomes]
rs28560010	1.00[ASN][1000 genomes]
rs28584529	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28601694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28603026	1.00[ASN][1000 genomes]
rs28624855	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28722087	1.00[ASN][1000 genomes]
rs6964755	1.00[CHB][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965803	1.00[EUR][1000 genomes]
rs6968530	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6968845	1.00[ASN][1000 genomes]
rs6973297	1.00[ASN][1000 genomes]
rs73196918	1.00[ASN][1000 genomes]
rs7341402	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73718117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718127	1.00[ASN][1000 genomes]
rs73718130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73718137	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777041	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7778342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7798366	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7800661	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7806160	1.00[AMR][1000 genomes];1.00[EUR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:112551600-112575600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:112551600-112575800	Weak transcription	GM12878-XiMat	blood
5	chr7:112551600-112576200	Weak transcription	Ovary	ovary
6	chr7:112551600-112577400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
9	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:112554000-112577200	Weak transcription	Primary B cells from cord blood	blood
11	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
12	chr7:112556200-112575800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:112556800-112576200	Weak transcription	Left Ventricle	heart
14	chr7:112556800-112577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:112562800-112576400	Weak transcription	Fetal Intestine Small	intestine
17	chr7:112563200-112578200	Weak transcription	HUVEC	blood vessel
18	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:112568400-112576200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:112568400-112578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:112569800-112575600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:112569800-112576200	Weak transcription	Fetal Intestine Large	intestine
23	chr7:112570400-112578400	Weak transcription	NH-A	brain
24	chr7:112571200-112576200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:112571200-112576800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:112571200-112577600	Weak transcription	NHLF	lung
27	chr7:112571200-112577800	Weak transcription	Thymus	Thymus
28	chr7:112571200-112577800	Weak transcription	K562	blood
29	chr7:112571200-112578200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:112571200-112578200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:112571400-112576000	Weak transcription	Fetal Brain Male	brain
32	chr7:112571400-112576800	Weak transcription	HMEC	breast
33	chr7:112571400-112577200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:112571400-112577200	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:112571400-112577400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:112571400-112578800	Weak transcription	Psoas Muscle	Psoas
37	chr7:112571600-112575600	Weak transcription	Dnd41	blood
38	chr7:112571600-112577400	Weak transcription	NHDF-Ad	bronchial
39	chr7:112571600-112578200	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:112571600-112578200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:112571600-112578800	Weak transcription	Small Intestine	intestine
42	chr7:112571800-112575800	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:112571800-112576200	Weak transcription	Osteobl	bone
44	chr7:112571800-112576400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:112571800-112576400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:112571800-112576400	Weak transcription	Fetal Lung	lung
47	chr7:112571800-112576600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:112571800-112576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:112571800-112576800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:112571800-112577200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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