Variant report

Variant	rs10196974
Chromosome Location	chr2:171981067-171981068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171980164..171981801-chr2:172013211..172015839,2	K562	blood:
2	chr2:171978954..171981322-chr2:171983715..171985729,2	MCF-7	breast:
3	chr2:171973244..171979114-chr2:171979690..171986296,7	K562	blood:
4	chr2:171978962..171981952-chr2:171996224..171998701,2	K562	blood:
5	chr13:29098540..29099208-chr2:171980555..171981116,2	MCF-7	breast:
6	chr2:171980528..171986238-chr2:171991327..171994997,6	K562	blood:
7	chr2:171974197..171977352-chr2:171979690..171985118,6	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10168839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201988	1.00[AMR][1000 genomes]
rs10202899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406472	0.86[AFR][1000 genomes]
rs13409678	1.00[AMR][1000 genomes]
rs13413694	1.00[AMR][1000 genomes]
rs7595340	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:171954600-171987200	Weak transcription	Fetal Stomach	stomach
4	chr2:171957200-171982400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:171957200-171986000	Weak transcription	Spleen	Spleen
6	chr2:171957200-172010400	Weak transcription	HSMM	muscle
7	chr2:171966600-171981200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:171968400-171981800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:171968800-171985400	Weak transcription	Left Ventricle	heart
10	chr2:171971200-171993000	Weak transcription	Gastric	stomach
11	chr2:171971400-171981400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:171973600-171981200	Weak transcription	Small Intestine	intestine
13	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:171973800-171989200	Weak transcription	K562	blood
15	chr2:171973800-171990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:171974000-171981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:171974000-171984400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:171974000-171988600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:171974000-171990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:171974000-171996400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
22	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
23	chr2:171974200-171981200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:171974200-171981400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:171974200-171984800	Weak transcription	GM12878-XiMat	blood
26	chr2:171974200-171985000	Weak transcription	Primary B cells from cord blood	blood
27	chr2:171974200-171993600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:171974200-171996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:171974400-171984600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:171974400-171985000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:171974400-171992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:171974600-171984800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:171976000-171983400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:171976000-171988800	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:171976000-171990400	Weak transcription	Aorta	Aorta
38	chr2:171976400-171981800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:171976400-171983800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:171976400-171985600	Weak transcription	Primary T cells from cord blood	blood
41	chr2:171976400-171993400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:171977600-171985800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:171979000-171985200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:171979000-171987000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:171979000-171990400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:171980000-171981400	Enhancers	Liver	Liver
47	chr2:171980000-171981800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:171980000-171982000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:171980400-171981800	Enhancers	HepG2	liver
50	chr2:171980400-171983400	Weak transcription	Primary T cells fromperipheralblood	blood

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