Variant report

Variant	rs6980317
Chromosome Location	chr7:39616193-39616194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39609139..39613691-chr7:39613860..39617111,6	K562	blood:

Variant related genes	Relation type
ENSG00000236015	Chromatin interaction
ENSG00000241127	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17171603	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs2329455	0.83[YRI][hapmap]
rs58299139	0.80[AFR][1000 genomes]
rs59071947	0.97[AFR][1000 genomes]
rs6462933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6948276	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73375695	0.83[AFR][1000 genomes]
rs73377370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73377373	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7777434	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785964	0.80[AFR][1000 genomes]
rs7786253	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7802552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9768664	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9770659	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39606600-39616200	Weak transcription	Spleen	Spleen
2	chr7:39606600-39616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:39606600-39616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:39606600-39618600	Weak transcription	Gastric	stomach
5	chr7:39606600-39619800	Weak transcription	Lung	lung
6	chr7:39607000-39616800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:39607000-39618800	Weak transcription	Right Ventricle	heart
8	chr7:39607000-39619800	Weak transcription	Ovary	ovary
9	chr7:39607000-39623800	Weak transcription	Pancreas	Pancrea
10	chr7:39607000-39631400	Weak transcription	Aorta	Aorta
11	chr7:39607200-39617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:39607200-39619200	Weak transcription	Colonic Mucosa	Colon
13	chr7:39607200-39620000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:39607200-39620200	Weak transcription	Small Intestine	intestine
15	chr7:39607200-39620200	Weak transcription	Stomach Mucosa	stomach
16	chr7:39607200-39620200	Weak transcription	Thymus	Thymus
17	chr7:39607200-39621000	Weak transcription	Right Atrium	heart
18	chr7:39607200-39623200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:39607200-39628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:39607200-39629000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:39607600-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:39607600-39618000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:39607600-39619000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:39607600-39620200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:39607600-39620200	Weak transcription	Fetal Heart	heart
26	chr7:39607600-39628600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:39607600-39629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:39607800-39623400	Weak transcription	NHEK	skin
29	chr7:39608600-39619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:39609000-39616200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:39609000-39618400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:39609200-39616400	Strong transcription	Adipose Nuclei	Adipose
33	chr7:39609400-39619000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:39609600-39620000	Weak transcription	K562	blood
35	chr7:39609800-39620000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:39609800-39622200	Weak transcription	Esophagus	oesophagus
37	chr7:39610000-39617000	Strong transcription	Fetal Lung	lung
38	chr7:39610400-39620800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:39610800-39617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:39610800-39620400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:39610800-39628800	Weak transcription	GM12878-XiMat	blood
42	chr7:39612200-39627000	Weak transcription	NHLF	lung
43	chr7:39612400-39618000	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:39612400-39619600	Weak transcription	HepG2	liver
45	chr7:39612400-39620000	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:39612400-39620000	Weak transcription	NH-A	brain
47	chr7:39612400-39620200	Weak transcription	Brain Angular Gyrus	brain
48	chr7:39612400-39626600	Weak transcription	HSMM	muscle
49	chr7:39612400-39628000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:39612600-39616600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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