Variant report

Variant	rs73410104
Chromosome Location	chr7:102631348-102631349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102629638..102632111-chr7:102696219..102697817,2	K562	blood:
2	chr7:102630195..102631725-chr7:102699498..102701582,2	K562	blood:
3	chr7:102627919..102629951-chr7:102630613..102632281,3	K562	blood:
4	chr7:102628465..102631626-chr7:102631792..102634551,3	MCF-7	breast:
5	chr7:102629921..102632610-chr7:102634773..102637196,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1061844	1.00[ASN][1000 genomes]
rs12113318	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12154379	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55817310	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56165482	1.00[ASN][1000 genomes]
rs61110292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465887	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465889	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67993916	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6958836	1.00[ASN][1000 genomes]
rs6965463	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410128	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7777217	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799057	1.00[ASN][1000 genomes]
rs7806025	1.00[ASN][1000 genomes]
rs7806616	1.00[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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:102625800-102632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:102626400-102631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:102627800-102631800	Genic enhancers	K562	blood
5	chr7:102628200-102631600	Enhancers	Ovary	ovary
6	chr7:102629000-102634200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:102629000-102634400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:102629400-102631600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:102629400-102631800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:102629400-102632000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:102629400-102633400	Enhancers	Pancreas	Pancrea
12	chr7:102629400-102633600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:102629600-102632600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:102630000-102631400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:102630000-102631400	Enhancers	Right Atrium	heart
16	chr7:102630200-102632400	Weak transcription	Left Ventricle	heart
17	chr7:102630200-102632600	Weak transcription	Aorta	Aorta
18	chr7:102630200-102632600	Weak transcription	Gastric	stomach
19	chr7:102630400-102631600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:102630400-102633600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:102630400-102634600	Enhancers	Osteobl	bone
22	chr7:102630400-102635400	Enhancers	HUVEC	blood vessel
23	chr7:102630600-102633800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:102630600-102634200	Enhancers	HMEC	breast
25	chr7:102630800-102634600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:102631000-102631800	Enhancers	A549	lung
27	chr7:102631000-102633400	Enhancers	Small Intestine	intestine
28	chr7:102631000-102634200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:102631000-102634200	Enhancers	NHDF-Ad	bronchial
30	chr7:102631000-102634200	Enhancers	NHEK	skin
31	chr7:102631000-102634400	Enhancers	NHLF	lung
32	chr7:102631200-102631400	Enhancers	Spleen	Spleen
33	chr7:102631200-102631600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:102631200-102631600	Active TSS	Rectal Smooth Muscle	rectum
35	chr7:102631200-102631600	Flanking Active TSS	Hela-S3	cervix
36	chr7:102631200-102631800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:102631200-102632200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:102631200-102633200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:102631200-102633400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:102631200-102634200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:102631200-102634200	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:102631200-102634400	Enhancers	Colon Smooth Muscle	Colon
43	chr7:102631200-102634400	Enhancers	Stomach Mucosa	stomach
44	chr7:102631200-102634600	Enhancers	NH-A	brain
45	chr7:102631200-102634800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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