Variant report

Variant	rs905954
Chromosome Location	chr4:76736211-76736212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10016782	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10028291	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10031616	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10033315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11097122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11728073	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730896	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11938067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11943497	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12505149	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13102733	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13110602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13133144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13133472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13147276	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2047989	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2271472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869175	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2904018	0.82[ASN][1000 genomes]
rs3796481	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446339	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4859405	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859408	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859409	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859549	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4859552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859555	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55664143	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62318556	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6829993	0.80[EUR][1000 genomes]
rs6843016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845147	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846575	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7655464	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661037	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7665517	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
3	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:76707800-76738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:76716000-76737000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:76720400-76737000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:76720400-76738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:76720600-76737000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:76720600-76737000	Strong transcription	Osteobl	bone
11	chr4:76720600-76737200	Strong transcription	Liver	Liver
12	chr4:76720800-76736600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:76720800-76736800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr4:76720800-76737000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:76720800-76737000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:76721000-76736400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:76721000-76736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:76721000-76737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:76721200-76736800	Strong transcription	Fetal Intestine Large	intestine
20	chr4:76721400-76737000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:76721400-76738200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:76721400-76738200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:76721800-76736800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:76722400-76738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:76724000-76736800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:76724400-76736800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr4:76724800-76737200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:76724800-76738200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:76725000-76736400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:76725000-76736800	Strong transcription	Fetal Thymus	thymus
31	chr4:76725000-76736800	Strong transcription	HMEC	breast
32	chr4:76725000-76737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:76725000-76737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:76725000-76737200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:76725000-76738000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:76725000-76738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:76725000-76738200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:76725200-76736600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:76725200-76736800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:76725200-76737400	Strong transcription	Adipose Nuclei	Adipose
41	chr4:76725200-76738400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr4:76727400-76737200	Strong transcription	NHDF-Ad	bronchial
43	chr4:76728000-76736800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr4:76729000-76737000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:76729200-76736400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:76729200-76736600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:76729200-76736800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:76729200-76736800	Strong transcription	Fetal Muscle Leg	muscle
49	chr4:76729200-76736800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:76729200-76736800	Strong transcription	Dnd41	blood

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