Variant report

Variant	rs10246505
Chromosome Location	chr7:127552124-127552125
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	chr7:127545052..127549084-chr7:127551154..127554840,4	K562	blood:
2	chr7:127545052..127549084-chr7:127550970..127554840,5	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10226394	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10265516	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10280863	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035295	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11765620	0.84[AFR][1000 genomes]
rs11773160	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757764	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757768	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808080	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808081	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808083	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808089	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4473953	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57103099	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6965698	0.89[EUR][1000 genomes]
rs6969353	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6976887	0.83[EUR][1000 genomes]
rs7783102	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7786786	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
5	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
7	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
9	chr7:127542600-127553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:127542600-127553000	Weak transcription	Ovary	ovary
11	chr7:127542600-127553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:127542800-127552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:127542800-127554200	Weak transcription	Gastric	stomach
14	chr7:127544800-127554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:127544800-127560600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
17	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
18	chr7:127545200-127552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:127545600-127552400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:127545800-127552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:127545800-127555000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:127546000-127566800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:127546200-127552800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:127546200-127553200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:127546200-127554200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:127546200-127559000	Weak transcription	HSMM	muscle
28	chr7:127546200-127560400	Weak transcription	Pancreas	Pancrea
29	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:127546400-127558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:127546400-127567400	Weak transcription	NHDF-Ad	bronchial
32	chr7:127546400-127569200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:127546400-127569200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:127546400-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:127546400-127569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:127546400-127569200	Weak transcription	Placenta	Placenta
37	chr7:127546400-127569200	Weak transcription	Dnd41	blood
38	chr7:127546600-127552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:127546800-127569000	Weak transcription	Fetal Thymus	thymus
40	chr7:127546800-127569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:127546800-127569200	Weak transcription	Aorta	Aorta
42	chr7:127546800-127569200	Weak transcription	Lung	lung
43	chr7:127547400-127567000	Weak transcription	Liver	Liver
44	chr7:127547800-127553000	Weak transcription	Fetal Lung	lung
45	chr7:127547800-127569200	Weak transcription	Primary T cells from cord blood	blood
46	chr7:127547800-127569600	Weak transcription	A549	lung
47	chr7:127548000-127552800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:127548000-127567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:127548200-127555200	Weak transcription	Brain Substantia Nigra	brain
50	chr7:127548400-127553200	Weak transcription	NHLF	lung

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