Variant report

Variant	rs848508
Chromosome Location	chr2:36667283-36667284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36659185..36660941-chr2:36665845..36668463,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10186135	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10203010	1.00[JPT][hapmap]
rs11124514	1.00[JPT][hapmap]
rs11124515	1.00[JPT][hapmap]
rs11124516	1.00[JPT][hapmap]
rs1159133	1.00[JPT][hapmap]
rs1179502	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs12465282	1.00[JPT][hapmap]
rs12465297	1.00[JPT][hapmap]
rs12477836	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13394052	1.00[JPT][hapmap]
rs13407488	1.00[JPT][hapmap]
rs2689711	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2689714	1.00[ASN][1000 genomes]
rs3755214	1.00[JPT][hapmap]
rs3770932	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3770936	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3770946	1.00[JPT][hapmap]
rs3770947	1.00[JPT][hapmap]
rs4233914	1.00[JPT][hapmap]
rs4670554	1.00[JPT][hapmap]
rs6711707	1.00[JPT][hapmap]
rs711254	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs711255	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7589917	1.00[JPT][hapmap]
rs848506	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848509	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs848511	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs848512	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs848513	0.85[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848514	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs860232	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs888076	1.00[JPT][hapmap]

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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
3	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
7	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:36658000-36668400	Weak transcription	Esophagus	oesophagus
11	chr2:36660400-36671800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:36660600-36668200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:36660600-36668200	Weak transcription	Fetal Intestine Large	intestine
14	chr2:36660600-36668400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:36660600-36668400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:36660600-36668600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:36660600-36669600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:36660600-36669600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:36660600-36669800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:36660600-36682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:36660600-36683000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:36660800-36668000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:36660800-36668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:36660800-36668400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:36660800-36668400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:36660800-36668400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:36660800-36668600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:36660800-36668600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:36660800-36668600	Weak transcription	Spleen	Spleen
30	chr2:36660800-36669600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:36660800-36670000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:36660800-36670200	Weak transcription	Fetal Brain Female	brain
33	chr2:36660800-36678000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:36660800-36695600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:36661000-36668400	Weak transcription	Fetal Stomach	stomach
36	chr2:36661000-36668600	Weak transcription	Fetal Kidney	kidney
37	chr2:36661000-36669200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:36661000-36669800	Weak transcription	Fetal Brain Male	brain
39	chr2:36661200-36668800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:36661400-36668400	Weak transcription	Fetal Lung	lung
41	chr2:36661400-36676400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:36661600-36683000	Genic enhancers	HUVEC	blood vessel
43	chr2:36661800-36668400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:36662000-36668600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:36662200-36668400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:36662400-36668600	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:36663800-36667800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:36665200-36672000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:36665600-36667800	Enhancers	Psoas Muscle	Psoas
50	chr2:36665600-36668000	Enhancers	Stomach Smooth Muscle	stomach

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