Variant report

Variant	rs2237038
Chromosome Location	chr4:55525833-55525834
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	chr4:55524169..55525857-chr4:55532977..55534887,2	K562	blood:
2	chr4:55524852..55526702-chr4:55529627..55531996,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10488849	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11727273	0.95[EUR][1000 genomes]
rs11940731	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12499367	0.91[EUR][1000 genomes]
rs12503461	0.83[MEX][hapmap]
rs12504135	0.91[EUR][1000 genomes]
rs2159935	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2192158	0.91[EUR][1000 genomes]
rs2192159	0.91[EUR][1000 genomes]
rs2237029	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.96[ASN][1000 genomes]
rs2237030	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237037	1.00[CEU][hapmap]
rs2855778	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819386	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819391	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819393	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554193	0.90[EUR][1000 genomes]
rs6554194	0.90[EUR][1000 genomes]
rs6554198	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap]
rs6554199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap]
rs6554200	0.91[CEU][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815651	0.85[EUR][1000 genomes]
rs6825293	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7679314	0.81[EUR][1000 genomes]
rs7695300	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs981959	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999021	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010702	chr4:55440944-55528450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55523000-55526200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:55523000-55528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:55523200-55526400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:55523400-55526000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:55523400-55526000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:55523400-55526200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:55523400-55526400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr4:55523600-55526000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr4:55523800-55526000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:55523800-55526000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:55523800-55526000	Active TSS	Ovary	ovary
12	chr4:55524200-55526000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:55524200-55526000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
14	chr4:55524400-55526400	Active TSS	Lung	lung
15	chr4:55524600-55526000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:55524600-55526200	Active TSS	Brain Hippocampus Middle	brain
17	chr4:55524800-55526000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:55524800-55526000	Active TSS	Right Ventricle	heart
19	chr4:55524800-55526400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:55524800-55527200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:55525000-55526000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:55525000-55526400	Flanking Bivalent TSS/Enh	NHEK	skin
23	chr4:55525000-55526600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr4:55525200-55526000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:55525200-55526000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:55525200-55526000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:55525200-55526000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr4:55525200-55526000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr4:55525200-55526200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr4:55525200-55526200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
31	chr4:55525200-55526400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr4:55525200-55526400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr4:55525200-55526600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:55525200-55526600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr4:55525200-55527400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr4:55525400-55526000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:55525400-55526000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr4:55525400-55526000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
39	chr4:55525400-55526000	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr4:55525400-55526000	Flanking Active TSS	Fetal Brain Male	brain
41	chr4:55525400-55526000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr4:55525400-55526000	Weak transcription	Gastric	stomach
43	chr4:55525400-55526000	Active TSS	Psoas Muscle	Psoas
44	chr4:55525400-55526000	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr4:55525400-55526000	Weak transcription	Spleen	Spleen
46	chr4:55525400-55526000	Flanking Active TSS	K562	blood
47	chr4:55525400-55526000	Flanking Bivalent TSS/Enh	NH-A	brain
48	chr4:55525400-55526200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr4:55525400-55526200	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr4:55525400-55526400	Flanking Active TSS	Brain Cingulate Gyrus	brain

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