Variant report

Variant	rs10950055
Chromosome Location	chr7:66393387-66393388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:66393384-66393419	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:66393376-66393504	GM12878	blood:	n/a	n/a
3	MAZ	chr7:66393343-66393410	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:66391341..66394303-chr7:66398418..66401145,2	MCF-7	breast:
2	chr7:66391302..66393822-chr7:66405825..66407426,2	K562	blood:
3	chr7:66392066..66395575-chr7:66397284..66400489,4	K562	blood:
4	chr7:66393271..66394873-chr7:66396881..66398631,2	MCF-7	breast:
5	chr7:66385169..66388074-chr7:66392898..66397062,6	MCF-7	breast:
6	chr7:66390822..66393566-chr7:66398113..66400067,2	K562	blood:
7	chr7:66391798..66393449-chr7:66394205..66396474,2	MCF-7	breast:
8	chr7:66384799..66388848-chr7:66389441..66396879,12	K562	blood:

No data

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000106609	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10950054	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11762354	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11766583	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12668022	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12673366	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17747939	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17748121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17748198	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35244862	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735155	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3823610	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718429	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718433	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs6960230	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6974046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387400-66395000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66387400-66395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:66387600-66393400	Weak transcription	Fetal Heart	heart
4	chr7:66387600-66394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:66387600-66394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:66387600-66394800	Weak transcription	Esophagus	oesophagus
7	chr7:66387600-66395000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:66387600-66395200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:66387600-66395200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:66387600-66407200	Weak transcription	NH-A	brain
11	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
12	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:66387800-66397200	Weak transcription	Osteobl	bone
14	chr7:66388000-66394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:66388200-66393400	Weak transcription	HMEC	breast
16	chr7:66388200-66395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:66388200-66406800	Weak transcription	NHLF	lung
18	chr7:66388400-66393400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:66388400-66394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:66388400-66401200	Weak transcription	Fetal Lung	lung
21	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:66388600-66394600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:66388600-66395000	Strong transcription	NHEK	skin
25	chr7:66388600-66395400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:66388600-66396000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:66388600-66398000	Weak transcription	Placenta	Placenta
28	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
29	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
31	chr7:66388800-66394000	Weak transcription	Colonic Mucosa	Colon
32	chr7:66388800-66395200	Weak transcription	Brain Substantia Nigra	brain
33	chr7:66388800-66395600	Weak transcription	Ovary	ovary
34	chr7:66389000-66393800	Weak transcription	Left Ventricle	heart
35	chr7:66389000-66394200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:66389000-66395200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:66389000-66396000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:66389200-66394800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:66389200-66395000	Weak transcription	Liver	Liver
41	chr7:66389200-66395000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:66389200-66395200	Weak transcription	Primary T cells from cord blood	blood
43	chr7:66389200-66395600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:66389200-66398200	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:66389200-66398400	Weak transcription	Brain Angular Gyrus	brain
46	chr7:66389400-66394600	Weak transcription	Lung	lung
47	chr7:66389400-66395000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:66389400-66395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:66389400-66395200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:66389400-66405400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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