Variant report

Variant	rs6962371
Chromosome Location	chr7:50835020-50835021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50833742..50835575-chr7:50837710..50840000,2	K562	blood:
2	chr7:50834041..50837996-chr7:50859148..50861834,4	K562	blood:
3	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11770199	1.00[CHB][hapmap]
rs11772525	1.00[CHB][hapmap]
rs2329486	1.00[CHB][hapmap]
rs2715129	1.00[CHB][hapmap]
rs4947714	1.00[CHB][hapmap]
rs7810039	1.00[CHB][hapmap]

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	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
2	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
4	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
10	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:50824800-50836400	Weak transcription	NH-A	brain
12	chr7:50826000-50839000	Weak transcription	Ovary	ovary
13	chr7:50826400-50836200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:50828800-50837200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:50829800-50838200	Weak transcription	Aorta	Aorta
17	chr7:50829800-50838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:50829800-50849400	Weak transcription	Osteobl	bone
19	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
21	chr7:50831800-50837200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:50832400-50835200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:50832400-50837200	Weak transcription	Fetal Stomach	stomach
24	chr7:50833200-50835400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:50833200-50850200	Weak transcription	HSMM	muscle
26	chr7:50833400-50835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:50833400-50837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain
29	chr7:50833600-50835200	Enhancers	Brain Substantia Nigra	brain
30	chr7:50833600-50838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:50833800-50835200	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:50833800-50835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:50833800-50835400	Enhancers	Brain Hippocampus Middle	brain
34	chr7:50833800-50835600	Enhancers	Hela-S3	cervix
35	chr7:50833800-50836200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:50833800-50836800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:50834000-50835400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:50834000-50836400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:50834000-50836800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:50834200-50835200	Enhancers	A549	lung
41	chr7:50834200-50835400	Enhancers	Brain Angular Gyrus	brain
42	chr7:50834200-50835800	Enhancers	HUVEC	blood vessel
43	chr7:50834200-50837200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:50834400-50835800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:50834400-50837600	Enhancers	K562	blood
46	chr7:50834400-50838200	Enhancers	Left Ventricle	heart
47	chr7:50834400-50838800	Weak transcription	HepG2	liver
48	chr7:50834400-50840200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:50834600-50835600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:50834600-50836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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