Variant report

Variant	rs7806600
Chromosome Location	chr7:104899969-104899970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104890216..104893018-chr7:104897423..104900351,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1204064	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204075	0.80[AMR][1000 genomes]
rs17146101	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2237621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56761753	1.00[EUR][1000 genomes]
rs58572049	1.00[EUR][1000 genomes]
rs60247952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953948	1.00[MEX][hapmap]
rs73407839	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104886000-104902200	Weak transcription	Lung	lung
5	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:104889600-104902200	Weak transcription	HMEC	breast
7	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
8	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
10	chr7:104896600-104900000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:104896800-104902200	Weak transcription	Gastric	stomach
12	chr7:104897000-104905400	Weak transcription	Fetal Brain Male	brain
13	chr7:104897600-104902200	Weak transcription	Left Ventricle	heart
14	chr7:104897600-104906800	Weak transcription	Right Ventricle	heart
15	chr7:104897600-104907400	Weak transcription	Right Atrium	heart
16	chr7:104897800-104902000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:104898000-104902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:104898000-104902000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:104898000-104902000	Weak transcription	Fetal Heart	heart
20	chr7:104898000-104902000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:104898000-104902000	Weak transcription	A549	lung
22	chr7:104898000-104902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:104898000-104902200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:104898000-104902200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:104898000-104902200	Weak transcription	Osteobl	bone
26	chr7:104898000-104902400	Weak transcription	NH-A	brain
27	chr7:104898000-104907200	Weak transcription	Fetal Kidney	kidney
28	chr7:104898200-104901600	Weak transcription	Stomach Mucosa	stomach
29	chr7:104898200-104902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:104898200-104902200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:104898200-104902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:104898200-104902200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:104898200-104902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:104898200-104902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:104898200-104902200	Weak transcription	Liver	Liver
36	chr7:104898200-104902200	Weak transcription	Brain Angular Gyrus	brain
37	chr7:104898200-104902200	Weak transcription	Brain Anterior Caudate	brain
38	chr7:104898200-104902200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:104898200-104902200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:104898200-104902200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:104898200-104902200	Weak transcription	HSMM	muscle
42	chr7:104898200-104902200	Weak transcription	HSMMtube	muscle
43	chr7:104898200-104902200	Weak transcription	NHEK	skin
44	chr7:104898200-104907200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:104898600-104901200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:104898600-104901600	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:104898600-104902000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:104898600-104902000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:104898600-104902000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:104898600-104902000	Weak transcription	Hela-S3	cervix

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