Variant report

Variant	rs818486
Chromosome Location	chr7:16754069-16754070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16749812..16752201-chr7:16753789..16755924,2	K562	blood:
2	chr7:16752361..16754128-chr7:16792583..16794948,2	K562	blood:

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10245435	1.00[ASN][1000 genomes]
rs10257861	1.00[ASN][1000 genomes]
rs1144626	1.00[ASN][1000 genomes]
rs1144628	1.00[ASN][1000 genomes]
rs1149513	1.00[ASN][1000 genomes]
rs1167579	1.00[ASN][1000 genomes]
rs1177544	1.00[ASN][1000 genomes]
rs13242947	1.00[ASN][1000 genomes]
rs1626963	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136430	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331204	0.87[EUR][1000 genomes]
rs34385943	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494335	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697518	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697520	1.00[ASN][1000 genomes]
rs697521	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697523	1.00[ASN][1000 genomes]
rs697525	1.00[ASN][1000 genomes]
rs706046	1.00[ASN][1000 genomes]
rs706049	1.00[ASN][1000 genomes]
rs706050	1.00[ASN][1000 genomes]
rs71540764	1.00[ASN][1000 genomes]
rs818483	1.00[ASN][1000 genomes]
rs818493	1.00[ASN][1000 genomes]
rs818494	1.00[ASN][1000 genomes]
rs818997	1.00[ASN][1000 genomes]
rs819000	1.00[ASN][1000 genomes]
rs864211	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv887760	chr7:16714974-16776257	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16738000-16754600	Weak transcription	Esophagus	oesophagus
2	chr7:16738000-16758800	Weak transcription	Stomach Mucosa	stomach
3	chr7:16739200-16754600	Weak transcription	Thymus	Thymus
4	chr7:16744400-16754200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:16746200-16758200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:16746200-16759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:16746400-16754200	Weak transcription	Primary T cells from cord blood	blood
8	chr7:16746600-16758800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:16747200-16754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:16747400-16754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:16747400-16758200	Weak transcription	Fetal Intestine Large	intestine
12	chr7:16747800-16770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:16748400-16754200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:16748800-16757000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:16748800-16757400	Weak transcription	Placenta	Placenta
16	chr7:16748800-16757800	Weak transcription	Fetal Intestine Small	intestine
17	chr7:16749000-16754400	Weak transcription	Dnd41	blood
18	chr7:16749000-16758200	Weak transcription	K562	blood
19	chr7:16749000-16758800	Weak transcription	A549	lung
20	chr7:16749200-16758800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:16749400-16754600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:16749400-16779000	Weak transcription	Left Ventricle	heart
23	chr7:16752800-16759400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:16753800-16758800	Weak transcription	Osteobl	bone

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