Variant report

Variant	rs864211
Chromosome Location	chr7:16780932-16780933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16779357..16782355-chr7:16791735..16794097,2	K562	blood:
2	chr7:16780855..16783014-chr7:16791735..16794636,2	K562	blood:
3	chr7:16758359..16759912-chr7:16780544..16783064,2	K562	blood:
4	chr7:16779018..16781587-chr7:16788634..16791142,3	K562	blood:
5	chr7:16779895..16784354-chr7:16785318..16788487,4	K562	blood:
6	chr7:16737077..16739707-chr7:16779639..16781235,2	K562	blood:
7	chr7:16776463..16781643-chr7:16783792..16791142,8	K562	blood:
8	chr7:16779818..16782062-chr7:16798409..16800212,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235837	Chromatin interaction
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]
rs818493	1.00[GIH][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818494	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]
rs818997	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819000	0.92[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:42 , 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	chr7:16779400-16781000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:16779400-16781600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:16779400-16781800	Enhancers	HMEC	breast
16	chr7:16779600-16781200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:16779600-16781200	Weak transcription	Left Ventricle	heart
18	chr7:16779600-16781800	Enhancers	NH-A	brain
19	chr7:16779600-16784000	Weak transcription	Right Atrium	heart
20	chr7:16779600-16784200	Weak transcription	Pancreas	Pancrea
21	chr7:16779600-16784400	Enhancers	HUVEC	blood vessel
22	chr7:16779800-16781600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:16779800-16782000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:16779800-16785600	Enhancers	Fetal Lung	lung
25	chr7:16780000-16783400	Weak transcription	Stomach Mucosa	stomach
26	chr7:16780000-16784400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:16780200-16781000	Weak transcription	Adipose Nuclei	Adipose
28	chr7:16780200-16781200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:16780200-16781400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:16780200-16781400	Enhancers	HSMMtube	muscle
31	chr7:16780200-16784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:16780200-16786400	Weak transcription	Ovary	ovary
33	chr7:16780400-16781200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:16780400-16782200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:16780400-16782600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:16780600-16782800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:16780600-16782800	Weak transcription	NHEK	skin
38	chr7:16780800-16781400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:16780800-16781800	Enhancers	Right Ventricle	heart
40	chr7:16780800-16782800	Weak transcription	A549	lung
41	chr7:16780800-16783000	Weak transcription	NHLF	lung
42	chr7:16780800-16784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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