Variant report

Variant	rs818494
Chromosome Location	chr7:16780060-16780061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16779357..16782355-chr7:16791735..16794097,2	K562	blood:
2	chr7:16741614..16743174-chr7:16778699..16780426,2	K562	blood:
3	chr7:16779018..16781587-chr7:16788634..16791142,3	K562	blood:
4	chr7:16779895..16784354-chr7:16785318..16788487,4	K562	blood:
5	chr7:16737077..16739707-chr7:16779639..16781235,2	K562	blood:
6	chr7:16776463..16781643-chr7:16783792..16791142,8	K562	blood:
7	chr7:16779818..16782062-chr7:16798409..16800212,3	K562	blood:

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10245435	1.00[ASN][1000 genomes]
rs10257861	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144626	1.00[ASN][1000 genomes]
rs1144628	1.00[ASN][1000 genomes]
rs1149513	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167579	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1177544	0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs13242947	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626963	1.00[ASN][1000 genomes]
rs17136430	1.00[ASN][1000 genomes]
rs34385943	1.00[ASN][1000 genomes]
rs34494335	1.00[ASN][1000 genomes]
rs697518	1.00[ASN][1000 genomes]
rs697520	1.00[ASN][1000 genomes]
rs697521	1.00[ASN][1000 genomes]
rs697523	1.00[ASN][1000 genomes]
rs697525	1.00[ASN][1000 genomes]
rs706046	1.00[ASN][1000 genomes]
rs706049	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706050	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71540764	1.00[ASN][1000 genomes]
rs818483	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818486	1.00[ASN][1000 genomes]
rs818492	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs818493	1.00[GIH][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818997	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819000	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs864211	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr7:16771200-16788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16777600-16785000	Enhancers	K562	blood
3	chr7:16777800-16782800	Enhancers	Fetal Intestine Small	intestine
4	chr7:16778000-16784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:16778600-16781800	Enhancers	NHDF-Ad	bronchial
6	chr7:16778800-16781800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:16778800-16781800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:16779000-16781000	Enhancers	HSMM	muscle
9	chr7:16779000-16781600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:16779000-16781600	Enhancers	Fetal Heart	heart
11	chr7:16779200-16781800	Enhancers	Osteobl	bone
12	chr7:16779200-16782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:16779400-16780200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:16779400-16780200	Enhancers	Adipose Nuclei	Adipose
15	chr7:16779400-16780200	Enhancers	Ovary	ovary
16	chr7:16779400-16780600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:16779400-16780600	Enhancers	Hela-S3	cervix
18	chr7:16779400-16780800	Enhancers	Fetal Intestine Large	intestine
19	chr7:16779400-16780800	Enhancers	NHLF	lung
20	chr7:16779400-16781000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:16779400-16781600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:16779400-16781800	Enhancers	HMEC	breast
23	chr7:16779600-16780200	Weak transcription	HSMMtube	muscle
24	chr7:16779600-16780400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:16779600-16780800	Weak transcription	Right Ventricle	heart
26	chr7:16779600-16780800	Enhancers	A549	lung
27	chr7:16779600-16781200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:16779600-16781200	Weak transcription	Left Ventricle	heart
29	chr7:16779600-16781800	Enhancers	NH-A	brain
30	chr7:16779600-16784000	Weak transcription	Right Atrium	heart
31	chr7:16779600-16784200	Weak transcription	Pancreas	Pancrea
32	chr7:16779600-16784400	Enhancers	HUVEC	blood vessel
33	chr7:16779800-16780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:16779800-16780400	Enhancers	Colon Smooth Muscle	Colon
35	chr7:16779800-16780600	Enhancers	NHEK	skin
36	chr7:16779800-16780800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:16779800-16781600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:16779800-16782000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:16779800-16785600	Enhancers	Fetal Lung	lung
40	chr7:16780000-16780200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:16780000-16780200	Enhancers	Fetal Stomach	stomach
42	chr7:16780000-16780400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:16780000-16780400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:16780000-16783400	Weak transcription	Stomach Mucosa	stomach
45	chr7:16780000-16784400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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