Variant report

Variant	rs10192053
Chromosome Location	chr2:7090819-7090820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7089064..7092606-chr2:7093987..7098071,5	K562	blood:
2	chr2:7084388..7085908-chr2:7089261..7091175,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10189549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865731	0.85[YRI][hapmap]
rs3772021	0.90[ASN][1000 genomes]
rs7562120	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7075200-7095600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:7077800-7091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:7078200-7110800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:7079000-7113400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:7080400-7094800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:7081400-7112200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:7081600-7094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:7082600-7091800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:7082600-7100800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:7084200-7097200	Weak transcription	Fetal Lung	lung
12	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:7084400-7100400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:7084400-7100600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:7084400-7109600	Weak transcription	Fetal Thymus	thymus
16	chr2:7084400-7110800	Weak transcription	Esophagus	oesophagus
17	chr2:7084600-7092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:7084600-7105200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:7084600-7112800	Weak transcription	Thymus	Thymus
20	chr2:7084800-7095800	Weak transcription	Fetal Brain Female	brain
21	chr2:7085000-7095600	Weak transcription	Ovary	ovary
22	chr2:7085000-7120200	Weak transcription	Fetal Intestine Small	intestine
23	chr2:7085400-7110400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:7085600-7099600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:7085800-7096000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:7086000-7095200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:7086200-7095400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:7086200-7095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:7086200-7095600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:7086200-7098400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:7086200-7100600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:7086400-7094600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:7087200-7094600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:7087400-7091400	Weak transcription	HUVEC	blood vessel
35	chr2:7087600-7102800	Strong transcription	Dnd41	blood
36	chr2:7087800-7091800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:7088400-7094800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:7088400-7095400	Weak transcription	Pancreas	Pancrea
39	chr2:7088400-7095600	Weak transcription	Fetal Heart	heart
40	chr2:7088400-7095800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:7089000-7095800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:7089000-7098800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:7089200-7091000	Enhancers	Brain Anterior Caudate	brain
44	chr2:7089200-7091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:7089200-7094600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:7089200-7095400	Weak transcription	Psoas Muscle	Psoas
47	chr2:7089200-7095800	Weak transcription	Spleen	Spleen
48	chr2:7089200-7098000	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:7089200-7099000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:7089200-7100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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