Variant report

Variant	rs7088885
Chromosome Location	chr10:49731825-49731826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49730645..49732196-chr10:49747881..49750168,2	K562	blood:
2	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
3	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
4	chr10:49514209..49516197-chr10:49729789..49731994,3	K562	blood:
5	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:
6	chr10:49514209..49515853-chr10:49729935..49731994,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction
ENSG00000128805	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10776611	0.93[ASN][1000 genomes]
rs10776612	0.92[ASN][1000 genomes]
rs10776613	0.95[ASN][1000 genomes]
rs10857593	0.93[ASN][1000 genomes]
rs11101372	0.95[ASN][1000 genomes]
rs34223875	0.95[ASN][1000 genomes]
rs4012792	0.95[ASN][1000 genomes]
rs4838416	0.84[ASN][1000 genomes]
rs4838613	0.95[ASN][1000 genomes]
rs4838616	0.95[ASN][1000 genomes]
rs7896115	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7910327	0.85[ASN][1000 genomes]
rs7918009	0.95[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3392447	chr10:49731171-49733719	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49721400-49732000	Weak transcription	HMEC	breast
2	chr10:49730600-49732000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:49730600-49732200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49731000-49732400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr10:49731200-49732000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr10:49731200-49732000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr10:49731200-49732000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr10:49731200-49732200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:49731200-49732200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:49731200-49732200	Enhancers	Gastric	stomach
13	chr10:49731200-49732200	Active TSS	Right Atrium	heart
14	chr10:49731200-49732200	Flanking Active TSS	Right Ventricle	heart
15	chr10:49731200-49732200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
16	chr10:49731200-49732200	Bivalent Enhancer	Spleen	Spleen
17	chr10:49731200-49732200	Active TSS	HSMMtube	muscle
18	chr10:49731200-49732400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:49731200-49732600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:49731200-49732600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:49731200-49732600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:49731200-49732600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr10:49731200-49732600	Active TSS	Aorta	Aorta
24	chr10:49731200-49732600	Bivalent Enhancer	Fetal Brain Male	brain
25	chr10:49731200-49732800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:49731400-49732000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:49731400-49732000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:49731400-49732000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr10:49731400-49732000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr10:49731400-49732000	Active TSS	Colon Smooth Muscle	Colon
31	chr10:49731400-49732000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr10:49731400-49732000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr10:49731400-49732200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:49731400-49732200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:49731400-49732200	Enhancers	Primary B cells from cord blood	blood
36	chr10:49731400-49732200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr10:49731400-49732200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:49731400-49732200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr10:49731400-49732200	Flanking Active TSS	Liver	Liver
40	chr10:49731400-49732200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr10:49731400-49732200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr10:49731400-49732200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
43	chr10:49731400-49732400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:49731400-49732400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:49731400-49732400	Active TSS	Left Ventricle	heart
46	chr10:49731400-49732400	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr10:49731400-49732400	Active TSS	Rectal Smooth Muscle	rectum
48	chr10:49731400-49732400	Active TSS	NH-A	brain
49	chr10:49731400-49732600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr10:49731400-49732600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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