Variant report

Variant	rs4968949
Chromosome Location	chr17:66790536-66790537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66790371..66791470-chr17:66967983..66969294,6	MCF-7	breast:
2	chr17:66790300..66791288-chr17:66907471..66908085,3	MCF-7	breast:
3	chr17:66790411..66791366-chr17:67054059..67054582,2	K562	blood:
4	chr17:66789980..66791367-chr17:66902438..66903724,8	MCF-7	breast:
5	chr17:66790395..66791436-chr17:67231389..67232511,9	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10468435	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11657199	0.98[ASN][1000 genomes]
rs12451043	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1550645	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34907620	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968946	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7207331	0.86[ASN][1000 genomes]
rs8074847	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9891808	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9897902	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899443	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899682	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9901473	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902652	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9903417	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9911813	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66785000-66790600	Enhancers	Liver	Liver
2	chr17:66786400-66791000	Enhancers	Adipose Nuclei	Adipose
3	chr17:66786400-66791000	Enhancers	NHDF-Ad	bronchial
4	chr17:66786400-66791200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr17:66786400-66791800	Enhancers	Fetal Lung	lung
6	chr17:66786400-66791800	Enhancers	NHLF	lung
7	chr17:66786600-66791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:66786800-66791000	Enhancers	Osteobl	bone
9	chr17:66787000-66791400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:66787000-66791800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr17:66787200-66791800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr17:66787800-66791600	Enhancers	Fetal Stomach	stomach
13	chr17:66788000-66790600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr17:66788000-66790800	Enhancers	Brain Anterior Caudate	brain
15	chr17:66788000-66791000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:66788000-66791200	Enhancers	Brain Hippocampus Middle	brain
17	chr17:66788000-66791200	Enhancers	Brain Substantia Nigra	brain
18	chr17:66788000-66791200	Enhancers	Hela-S3	cervix
19	chr17:66788000-66791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:66788000-66805800	Weak transcription	Right Atrium	heart
21	chr17:66788200-66790600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:66788200-66790600	Weak transcription	Spleen	Spleen
23	chr17:66788200-66791000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:66788200-66791200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:66788400-66791000	Enhancers	Brain Cingulate Gyrus	brain
26	chr17:66788400-66791200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr17:66788400-66791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr17:66788400-66791600	Enhancers	A549	lung
29	chr17:66788600-66791400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr17:66788600-66791800	Enhancers	HUVEC	blood vessel
31	chr17:66788800-66791400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr17:66788800-66791400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:66788800-66791600	Enhancers	Ovary	ovary
34	chr17:66789000-66791000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:66789000-66791200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr17:66789200-66790800	Enhancers	Pancreas	Pancrea
37	chr17:66789200-66791200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:66789200-66791200	Enhancers	Fetal Intestine Small	intestine
39	chr17:66789200-66791400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:66789200-66791600	Enhancers	K562	blood
41	chr17:66789200-66791800	Enhancers	Brain Angular Gyrus	brain
42	chr17:66789200-66791800	Enhancers	Fetal Intestine Large	intestine
43	chr17:66789200-66792400	Enhancers	Fetal Muscle Leg	muscle
44	chr17:66789400-66790600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:66789400-66791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:66789600-66790800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr17:66789600-66791200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:66789800-66790800	Enhancers	Fetal Muscle Trunk	muscle
49	chr17:66789800-66791200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr17:66789800-66791800	Enhancers	Stomach Mucosa	stomach

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