Variant report

Variant	rs8179507
Chromosome Location	chr1:78112977-78112978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12027952	0.80[ASN][1000 genomes]
rs12030080	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12038908	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100848	0.81[AFR][1000 genomes]
rs60832898	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78076400-78113000	Weak transcription	Psoas Muscle	Psoas
2	chr1:78094800-78113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:78098400-78113400	Weak transcription	Pancreas	Pancrea
4	chr1:78098400-78116800	Weak transcription	Right Ventricle	heart
5	chr1:78098600-78113200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:78099000-78113800	Weak transcription	Fetal Brain Male	brain
7	chr1:78099000-78113800	Weak transcription	Spleen	Spleen
8	chr1:78099000-78147200	Weak transcription	Gastric	stomach
9	chr1:78099200-78114000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:78099200-78115000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:78099200-78120800	Weak transcription	Small Intestine	intestine
12	chr1:78099200-78132400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:78099600-78116800	Weak transcription	Aorta	Aorta
14	chr1:78100800-78115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:78100800-78116600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:78100800-78133200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:78101000-78113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:78102600-78114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:78105000-78114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:78105200-78114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:78105200-78117000	Weak transcription	HSMMtube	muscle
22	chr1:78105200-78131800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:78105400-78120600	Weak transcription	NH-A	brain
24	chr1:78105800-78122400	Weak transcription	HMEC	breast
25	chr1:78107400-78114200	Weak transcription	K562	blood
26	chr1:78107600-78146000	Weak transcription	Fetal Kidney	kidney
27	chr1:78108800-78114400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:78109200-78113400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:78109400-78114000	Weak transcription	Brain Substantia Nigra	brain
30	chr1:78109400-78114200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:78109600-78114400	Weak transcription	Brain Angular Gyrus	brain
32	chr1:78109800-78113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:78110000-78113400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:78110000-78113600	Strong transcription	Primary B cells from cord blood	blood
35	chr1:78110200-78114200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:78110200-78114400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:78110200-78114600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:78110400-78113800	Strong transcription	Fetal Thymus	thymus
39	chr1:78110400-78138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:78110800-78114000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:78111200-78113600	Weak transcription	Fetal Brain Female	brain
42	chr1:78111200-78114200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:78111200-78114200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:78111200-78114200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:78111200-78115000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:78111200-78116600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:78111200-78116600	Weak transcription	NHEK	skin
48	chr1:78111200-78116800	Weak transcription	Ovary	ovary
49	chr1:78111200-78116800	Weak transcription	Osteobl	bone
50	chr1:78111200-78117200	Weak transcription	Muscle Satellite Cultured Cells	--

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