Variant report

Variant	rs6963038
Chromosome Location	chr7:50797457-50797458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50795485..50798618-chr7:50800001..50802652,3	MCF-7	breast:
2	chr7:50790225..50792991-chr7:50795647..50797748,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12113777	1.00[AMR][1000 genomes]
rs6946052	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6949393	0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6961447	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6974112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:50781200-50797600	Weak transcription	HSMMtube	muscle
6	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:50783800-50798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:50783800-50798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:50784000-50799400	Weak transcription	Hela-S3	cervix
10	chr7:50787000-50797800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:50787000-50797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:50787000-50798600	Weak transcription	Brain Germinal Matrix	brain
13	chr7:50787000-50807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:50787800-50798200	Weak transcription	HepG2	liver
15	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:50789400-50798600	Weak transcription	A549	lung
17	chr7:50789400-50811600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50789600-50798200	Weak transcription	Brain Anterior Caudate	brain
19	chr7:50789600-50798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:50789600-50807400	Weak transcription	Esophagus	oesophagus
21	chr7:50789800-50797600	Weak transcription	Fetal Brain Female	brain
22	chr7:50789800-50798600	Weak transcription	Brain Angular Gyrus	brain
23	chr7:50790000-50801200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:50790200-50798000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:50790200-50801200	Weak transcription	Fetal Intestine Large	intestine
26	chr7:50790400-50797800	Weak transcription	Fetal Lung	lung
27	chr7:50790400-50798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:50790600-50799200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:50791800-50798400	Weak transcription	Fetal Brain Male	brain
30	chr7:50792800-50797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:50793000-50798200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:50793000-50798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:50793000-50798200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:50793000-50798200	Weak transcription	K562	blood
35	chr7:50793000-50799400	Enhancers	Liver	Liver
36	chr7:50793000-50799600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:50793000-50801400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:50793000-50801800	Weak transcription	Fetal Intestine Small	intestine
39	chr7:50793200-50807200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:50793800-50797800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:50793800-50798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:50793800-50807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:50794000-50801200	Weak transcription	Gastric	stomach
44	chr7:50794600-50799200	Enhancers	Adipose Nuclei	Adipose
45	chr7:50794800-50799400	Enhancers	NH-A	brain
46	chr7:50794800-50802200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:50794800-50802200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:50794800-50803000	Weak transcription	Primary T cells from cord blood	blood
49	chr7:50795000-50797800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:50795000-50799200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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