Variant report

Variant	rs10171615
Chromosome Location	chr2:39959433-39959434
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39949939..39952717-chr2:39956510..39959520,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10168666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10177342	1.00[AMR][1000 genomes]
rs10197101	1.00[AMR][1000 genomes]
rs12712654	0.81[AFR][1000 genomes]
rs12712655	0.81[AFR][1000 genomes]
rs13393172	0.81[AFR][1000 genomes]
rs13412186	1.00[AMR][1000 genomes]
rs13416764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59146573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61706206	1.00[AMR][1000 genomes]
rs6725034	1.00[AMR][1000 genomes]
rs6744797	1.00[AMR][1000 genomes]
rs6749057	0.81[AFR][1000 genomes]
rs6761738	1.00[AMR][1000 genomes]
rs73924903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7564579	1.00[AMR][1000 genomes]
rs7603886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
3	chr2:39946800-39959600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:39947800-39959800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:39948200-39961200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:39948800-39959600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:39949000-39960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:39951000-39963600	Weak transcription	Pancreas	Pancrea
9	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:39951400-39960200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:39951400-39961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:39951400-39961800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:39951400-39962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:39951400-39963800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:39952200-39960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:39952400-39962400	Weak transcription	Spleen	Spleen
19	chr2:39952600-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:39952800-39960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:39952800-39962400	Weak transcription	Fetal Kidney	kidney
22	chr2:39952800-39962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:39953200-39962400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:39954400-39959600	Weak transcription	HepG2	liver
25	chr2:39954400-39960000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:39954600-39960000	Weak transcription	K562	blood
27	chr2:39954800-39959800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:39955800-39960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:39956000-39962800	Weak transcription	HUVEC	blood vessel
30	chr2:39956200-39959600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:39956200-39960400	Weak transcription	GM12878-XiMat	blood
32	chr2:39956200-39962200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
34	chr2:39956400-39959600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:39956400-39962600	Weak transcription	Placenta	Placenta
36	chr2:39956600-39959600	Weak transcription	Dnd41	blood
37	chr2:39956600-39960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:39956600-39962000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:39956600-39962000	Weak transcription	NH-A	brain
40	chr2:39956600-39962800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:39956600-39963400	Weak transcription	Ovary	ovary
42	chr2:39956800-39964600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:39957200-39960800	Genic enhancers	HSMMtube	muscle
44	chr2:39957400-39959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
46	chr2:39957600-39960600	Strong transcription	Fetal Brain Female	brain
47	chr2:39957600-39960800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:39957600-39960800	Strong transcription	Fetal Stomach	stomach
49	chr2:39957600-39963200	Strong transcription	Fetal Lung	lung
50	chr2:39957600-39964200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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