Variant report

Variant	rs2228991
Chromosome Location	chr4:57796900-57796901
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	chr4:57772021..57774734-chr4:57795281..57798143,2	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10030913	0.83[ASN][1000 genomes]
rs10866440	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10866441	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1105434	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1107675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11729152	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11730321	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs11730525	0.81[ASN][1000 genomes]
rs11736192	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11736808	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11736869	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs11736965	0.88[ASN][1000 genomes]
rs11737689	0.84[ASN][1000 genomes]
rs11932673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11933908	0.81[ASN][1000 genomes]
rs12500454	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12501224	0.86[ASN][1000 genomes]
rs12501990	0.89[ASN][1000 genomes]
rs12502076	0.85[ASN][1000 genomes]
rs1277271	0.87[ASN][1000 genomes]
rs1277287	1.00[JPT][hapmap]
rs13108245	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13113802	0.82[ASN][1000 genomes]
rs13121176	0.85[ASN][1000 genomes]
rs13131605	0.84[ASN][1000 genomes]
rs13136432	0.86[ASN][1000 genomes]
rs13146960	0.81[ASN][1000 genomes]
rs13149162	0.80[ASN][1000 genomes]
rs13150593	0.86[ASN][1000 genomes]
rs13152476	0.85[ASN][1000 genomes]
rs1625691	1.00[JPT][hapmap]
rs17081937	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17087307	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17087317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17087411	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs17087414	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1718839	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1877669	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1963666	0.81[ASN][1000 genomes]
rs1976780	0.90[ASN][1000 genomes]
rs2014870	0.84[ASN][1000 genomes]
rs3000	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs34124552	0.86[ASN][1000 genomes]
rs34448457	0.86[ASN][1000 genomes]
rs34576794	0.85[ASN][1000 genomes]
rs34659774	0.90[ASN][1000 genomes]
rs35267092	0.86[ASN][1000 genomes]
rs3733306	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs3796528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4864606	0.81[ASN][1000 genomes]
rs4864607	0.80[ASN][1000 genomes]
rs4864608	0.89[ASN][1000 genomes]
rs62308135	0.81[ASN][1000 genomes]
rs62308136	0.81[ASN][1000 genomes]
rs62308137	0.80[ASN][1000 genomes]
rs62308155	0.85[ASN][1000 genomes]
rs6554397	0.81[ASN][1000 genomes]
rs6554398	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6554399	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816457	0.87[ASN][1000 genomes]
rs6838948	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6847086	0.82[JPT][hapmap]
rs6852110	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6854420	0.81[ASN][1000 genomes]
rs73242609	0.81[ASN][1000 genomes]
rs73242616	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73242617	0.81[EUR][1000 genomes]
rs7661194	1.00[JPT][hapmap]
rs7680734	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7685576	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695970	0.81[ASN][1000 genomes]
rs781665	0.88[ASN][1000 genomes]
rs781666	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs781668	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9942208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 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	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
4	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:57778000-57797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:57778400-57800200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:57778400-57800200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:57779200-57799200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:57779800-57797600	Weak transcription	Fetal Brain Male	brain
13	chr4:57779800-57799600	Weak transcription	Right Atrium	heart
14	chr4:57780400-57800400	Strong transcription	Fetal Thymus	thymus
15	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:57781000-57799600	Weak transcription	Psoas Muscle	Psoas
17	chr4:57781800-57801400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:57783000-57798400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:57783200-57801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:57783800-57802000	Strong transcription	Dnd41	blood
21	chr4:57784200-57800000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:57784800-57798200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:57785400-57800800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr4:57786200-57800400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:57786400-57798200	Strong transcription	Fetal Stomach	stomach
26	chr4:57788800-57798200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:57788800-57798200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr4:57789800-57803200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:57790400-57798600	Strong transcription	Primary T cells from cord blood	blood
30	chr4:57790800-57799800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:57793200-57797000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:57793200-57798400	Strong transcription	Fetal Intestine Large	intestine
33	chr4:57793400-57798600	Strong transcription	Placenta	Placenta
34	chr4:57793400-57799600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:57793400-57800400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:57793600-57798000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:57793600-57800200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:57794000-57798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:57794000-57800400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr4:57794200-57798000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:57794400-57798200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:57794400-57798400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:57794600-57798200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:57794600-57798200	Strong transcription	Fetal Muscle Leg	muscle
47	chr4:57794600-57798400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:57794600-57798400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:57794600-57798400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:57794600-57798600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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