Variant report

Variant	rs11891477
Chromosome Location	chr2:58352184-58352185
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58350031..58352621-chr2:58354881..58357674,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10165760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174202	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10176681	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10178025	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10182762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10203014	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1025755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11883874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11892302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900900	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12104650	0.82[AFR][1000 genomes]
rs12105064	0.81[AMR][1000 genomes]
rs13382369	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13394820	0.92[AFR][1000 genomes]
rs13397947	0.89[AMR][1000 genomes]
rs13405281	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410228	0.83[AFR][1000 genomes]
rs13410500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419989	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13431271	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1371213	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2165100	0.89[AFR][1000 genomes]
rs2165103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2312486	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28521626	0.92[AFR][1000 genomes]
rs4459722	0.86[AFR][1000 genomes]
rs57112138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57597086	0.80[AFR][1000 genomes]
rs58470176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60364084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718190	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6740373	0.89[AMR][1000 genomes]
rs6740836	0.89[AMR][1000 genomes]
rs6742445	0.89[AMR][1000 genomes]
rs716758	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948876	0.89[AMR][1000 genomes]
rs72949137	0.88[AFR][1000 genomes]
rs72951042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7340170	0.89[AMR][1000 genomes]
rs73944804	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7563312	0.81[AFR][1000 genomes]
rs7569184	0.81[AMR][1000 genomes]
rs7569731	0.84[AFR][1000 genomes]
rs7574578	0.89[AMR][1000 genomes]
rs7574694	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7590976	0.89[AMR][1000 genomes]
rs7597069	0.89[AMR][1000 genomes]
rs7600213	0.88[AFR][1000 genomes]
rs9309303	0.89[AMR][1000 genomes]
rs9973345	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973928	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58303000-58358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:58311200-58382400	Weak transcription	Aorta	Aorta
3	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:58318200-58373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:58319400-58358400	Weak transcription	Ovary	ovary
6	chr2:58319800-58359000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:58319800-58367200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:58320000-58359000	Weak transcription	Left Ventricle	heart
9	chr2:58332400-58370800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:58335800-58358600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:58336400-58365000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:58337000-58358600	Weak transcription	NHLF	lung
13	chr2:58337200-58358400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:58338000-58358400	Weak transcription	Fetal Stomach	stomach
15	chr2:58338200-58365400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:58338800-58359000	Weak transcription	HepG2	liver
17	chr2:58340000-58358400	Weak transcription	NH-A	brain
18	chr2:58340600-58358400	Weak transcription	HMEC	breast
19	chr2:58340600-58363000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:58340600-58367000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:58340600-58373600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:58346000-58358600	Weak transcription	Fetal Lung	lung
24	chr2:58346000-58384400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:58346600-58358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:58346600-58373600	Weak transcription	NHEK	skin
27	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:58347000-58360800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:58347200-58360200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:58347200-58373800	Weak transcription	Hela-S3	cervix
31	chr2:58347600-58352600	Strong transcription	Primary B cells from cord blood	blood
32	chr2:58347800-58369800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:58347800-58384000	Weak transcription	Fetal Kidney	kidney
34	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:58348000-58360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:58348200-58358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:58348200-58360600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:58348400-58358400	Weak transcription	NHDF-Ad	bronchial
39	chr2:58348400-58373400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:58348400-58373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:58348600-58382400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:58348800-58357000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:58348800-58365600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:58349000-58358400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:58349000-58358400	Weak transcription	Pancreas	Pancrea
46	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
47	chr2:58349400-58353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:58349400-58358600	Weak transcription	A549	lung
49	chr2:58349600-58352800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:58350200-58353600	Strong transcription	GM12878-XiMat	blood

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