Variant report

Variant	rs6954944
Chromosome Location	chr7:121781656-121781657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121779239..121781681-chr7:121799360..121802322,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10488107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977512	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12113399	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530583	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12538079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17616983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2109333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2268077	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300199	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4727938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57341517	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59110694	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59224714	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59529453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59993706	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60159595	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61624073	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6948443	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952698	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72499551	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73224332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73224336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73224339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73226257	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73226277	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73226300	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7784030	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810763	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121744600-121783200	Weak transcription	Lung	lung
2	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:121775600-121783200	Weak transcription	Gastric	stomach
6	chr7:121775800-121782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121776400-121783000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
8	chr7:121777400-121782200	Weak transcription	Fetal Stomach	stomach
9	chr7:121777600-121782200	Weak transcription	Pancreas	Pancrea
10	chr7:121777600-121782800	Weak transcription	Fetal Brain Female	brain
11	chr7:121777600-121783000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:121777600-121783200	Weak transcription	Esophagus	oesophagus
13	chr7:121777800-121783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:121777800-121783200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:121778000-121782000	Weak transcription	Left Ventricle	heart
16	chr7:121778000-121782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:121778000-121782800	Weak transcription	HMEC	breast
18	chr7:121778000-121783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:121778000-121783000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:121778000-121783000	Weak transcription	Fetal Brain Male	brain
21	chr7:121778000-121783000	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:121778000-121783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:121778200-121782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:121778200-121782000	Weak transcription	Brain Germinal Matrix	brain
25	chr7:121778200-121782200	Weak transcription	Aorta	Aorta
26	chr7:121778200-121782400	Weak transcription	HepG2	liver
27	chr7:121778200-121782800	Weak transcription	NH-A	brain
28	chr7:121778200-121783000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:121778200-121783000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:121778200-121783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:121778200-121783000	Weak transcription	Adipose Nuclei	Adipose
32	chr7:121778200-121783000	Weak transcription	Brain Anterior Caudate	brain
33	chr7:121778200-121783000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:121778200-121783000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:121778200-121783000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:121778200-121783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:121778200-121783000	Weak transcription	Psoas Muscle	Psoas
38	chr7:121778200-121783000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:121778200-121783000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:121778200-121783000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:121778200-121783000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:121778200-121783000	Weak transcription	HSMM	muscle
43	chr7:121778200-121783400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:121778800-121781800	Weak transcription	NHDF-Ad	bronchial
45	chr7:121778800-121782000	Weak transcription	Brain Substantia Nigra	brain
46	chr7:121778800-121782400	Weak transcription	Brain Angular Gyrus	brain
47	chr7:121778800-121782400	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:121779000-121782200	Weak transcription	HUVEC	blood vessel
49	chr7:121779000-121782800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:121779400-121781800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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