Variant report

Variant	rs4548577
Chromosome Location	chr11:46998512-46998513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46993954..46995802-chr11:46998173..47000292,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10466478	0.83[CHB][hapmap]
rs10501319	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1060573	0.83[CHB][hapmap]
rs10769225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769226	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769228	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769234	0.86[CHB][hapmap]
rs10838635	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10838640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838641	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10838660	0.83[CHB][hapmap]
rs10838662	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10838663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10838664	0.82[ASN][1000 genomes]
rs11039028	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039033	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11039057	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11039074	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11039080	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039081	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039097	0.83[CHB][hapmap]
rs11039105	0.83[CHB][hapmap]
rs11039112	0.83[CHB][hapmap]
rs11600292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11600668	0.83[CHB][hapmap]
rs11601798	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11602250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11603373	0.83[ASN][1000 genomes]
rs11608083	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12224096	0.82[CHB][hapmap]
rs12417519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12574410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12796744	0.83[CHB][hapmap]
rs12807111	0.83[EUR][1000 genomes]
rs1551744	0.81[JPT][hapmap]
rs17790204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1872896	0.83[CHB][hapmap]
rs2035068	0.82[EUR][1000 genomes]
rs2087215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2279438	0.82[ASN][1000 genomes]
rs2279439	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2306027	0.80[EUR][1000 genomes]
rs2306035	0.82[EUR][1000 genomes]
rs34340483	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3922684	0.87[ASN][1000 genomes]
rs4269876	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4315028	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4394802	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4494268	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4498951	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4528282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4576779	0.86[ASN][1000 genomes]
rs4581406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4587689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4752815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752957	0.83[CHB][hapmap]
rs4752962	0.83[CHB][hapmap]
rs4752965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4752967	0.83[CHB][hapmap]
rs4752969	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs61896133	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61896136	0.87[ASN][1000 genomes]
rs6485715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6485716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6485726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6485739	0.83[CHB][hapmap]
rs7103581	0.83[CHB][hapmap]
rs7108822	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108902	0.83[CHB][hapmap]
rs7111270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7112854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7114683	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7121418	0.83[CHB][hapmap]
rs7123632	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7124648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7125807	0.82[CHB][hapmap]
rs7126005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7127741	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128193	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7130947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747650	0.83[CHB][hapmap]
rs7929688	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931260	0.83[CHB][hapmap]
rs7935346	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7937410	0.82[ASN][1000 genomes]
rs7938169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939786	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7940240	0.83[ASN][1000 genomes]
rs7940441	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7945315	0.83[CHB][hapmap]
rs7945558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7946709	0.83[CHB][hapmap]
rs7946739	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7950753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7951979	0.82[ASN][1000 genomes]
rs901747	0.82[ASN][1000 genomes]
rs923324	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][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	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46959000-46998600	Weak transcription	Left Ventricle	heart
2	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:46974200-46998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:46974200-47008400	Weak transcription	Primary T cells from cord blood	blood
5	chr11:46980400-46998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:46980400-46998600	Weak transcription	Thymus	Thymus
7	chr11:46980600-46998600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:46980600-46999600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:46980600-47014000	Weak transcription	Aorta	Aorta
10	chr11:46980600-47021000	Weak transcription	Ovary	ovary
11	chr11:46980600-47026000	Weak transcription	HSMM	muscle
12	chr11:46981200-47023400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:46983000-47024000	Weak transcription	Primary B cells from cord blood	blood
14	chr11:46983400-46998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:46989200-47026000	Weak transcription	Dnd41	blood
16	chr11:46992600-46998600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:46994000-46998600	Weak transcription	Gastric	stomach
18	chr11:46994000-46998600	Weak transcription	Small Intestine	intestine
19	chr11:46994000-47026000	Weak transcription	Colonic Mucosa	Colon
20	chr11:46994200-47000200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:46994200-47004800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:46994200-47021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:46994400-46998800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:46994400-47014800	Weak transcription	Esophagus	oesophagus
25	chr11:46994600-46999400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:46994800-46998600	Weak transcription	Stomach Mucosa	stomach
27	chr11:46995200-46998800	Weak transcription	K562	blood
28	chr11:46995400-46999000	Weak transcription	Fetal Lung	lung
29	chr11:46995400-46999400	Weak transcription	Osteobl	bone
30	chr11:46995400-47004400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:46996000-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:46996000-46998600	Weak transcription	Fetal Stomach	stomach
33	chr11:46996000-47006600	Weak transcription	Fetal Intestine Small	intestine
34	chr11:46996000-47011400	Weak transcription	Pancreas	Pancrea
35	chr11:46996000-47025800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:46996600-46999400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:46997000-46998600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:46997000-46998600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:46997000-47002200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:46997200-46998600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr11:46997200-47000400	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:46997400-46998600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:46997400-46998600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:46997400-46998600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr11:46997400-46998600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:46997400-46998600	Enhancers	Brain Anterior Caudate	brain
47	chr11:46997400-46998600	Enhancers	HepG2	liver
48	chr11:46997400-46999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:46997400-47002200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:46997600-46998600	Enhancers	HUES48 Cell Line	embryonic stem cell

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