Variant report

Variant	rs11891287
Chromosome Location	chr2:172242179-172242180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10190558	1.00[AMR][1000 genomes]
rs10204895	1.00[AMR][1000 genomes]
rs1178010	0.82[YRI][hapmap]
rs13006153	0.82[YRI][hapmap]
rs13413694	1.00[AMR][1000 genomes]
rs1733487	0.85[YRI][hapmap]
rs2193621	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6433289	1.00[AMR][1000 genomes]
rs6741663	0.94[AFR][1000 genomes]
rs7595340	1.00[AMR][1000 genomes]
rs888428	1.00[YRI][hapmap];0.90[AFR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172222200-172289600	Weak transcription	Gastric	stomach
3	chr2:172229400-172246800	Weak transcription	NH-A	brain
4	chr2:172231400-172248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:172231800-172243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:172231800-172248200	Weak transcription	Esophagus	oesophagus
7	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:172235400-172244600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:172235600-172243400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:172237800-172244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
13	chr2:172238200-172243400	Weak transcription	Primary B cells from cord blood	blood
14	chr2:172238600-172247200	Weak transcription	NHEK	skin
15	chr2:172238800-172246800	Weak transcription	HMEC	breast
16	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
17	chr2:172239000-172248000	Weak transcription	HepG2	liver
18	chr2:172239000-172250000	Weak transcription	Fetal Stomach	stomach
19	chr2:172239200-172250400	Weak transcription	Fetal Heart	heart
20	chr2:172239200-172250600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:172239200-172257400	Weak transcription	K562	blood
22	chr2:172239600-172243400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:172239600-172247600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:172240000-172243000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:172240000-172248000	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:172240200-172247800	Weak transcription	NHLF	lung
27	chr2:172240600-172243200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:172240600-172244200	Weak transcription	GM12878-XiMat	blood
29	chr2:172240600-172244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:172240600-172247000	Weak transcription	HSMMtube	muscle
31	chr2:172240600-172251000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:172241000-172242600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:172241000-172243200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:172241400-172247400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:172241600-172246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172241800-172245000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:172242000-172242200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:172242000-172242600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:172242000-172243000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:172242000-172243200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:172242000-172243200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:172242000-172243400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:172242000-172243400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:172242000-172243600	Strong transcription	Fetal Intestine Small	intestine
45	chr2:172242000-172243800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr2:172242000-172244000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:172242000-172244400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:172242000-172244600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:172242000-172246800	Enhancers	Primary B cells from peripheral blood	blood

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