Variant report

Variant	rs2254704
Chromosome Location	chr2:37073809-37073810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37068889..37071543-chr2:37072679..37074601,2	K562	blood:
2	chr2:37068151..37070389-chr2:37071740..37074179,2	K562	blood:
3	chr2:37073507..37075966-chr2:37080375..37082990,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268688	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1015599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1019311	0.84[YRI][hapmap]
rs11896317	1.00[AMR][1000 genomes]
rs2160378	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2247610	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs2540921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540927	0.83[YRI][hapmap]
rs2540928	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540934	0.85[YRI][hapmap]
rs2540935	0.86[YRI][hapmap]
rs2540937	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes]
rs2691113	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs2691117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes]
rs2717498	0.89[YRI][hapmap]
rs2717499	0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717504	0.82[YRI][hapmap]
rs2717506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717514	0.82[YRI][hapmap]
rs2717515	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2717521	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2949393	1.00[AMR][1000 genomes]
rs57644053	1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61382980	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61561618	1.00[AMR][1000 genomes]
rs6734109	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6758058	1.00[AMR][1000 genomes]
rs723674	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7593646	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs964853	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062400-37074000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:37062400-37075800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:37062800-37076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:37063000-37074000	Weak transcription	Dnd41	blood
6	chr2:37063000-37074200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:37063000-37076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:37063200-37074200	Weak transcription	HUVEC	blood vessel
10	chr2:37064000-37076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:37065800-37074000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
13	chr2:37066000-37076200	Weak transcription	Lung	lung
14	chr2:37066200-37075200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:37066400-37076200	Weak transcription	Fetal Stomach	stomach
16	chr2:37066800-37076200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:37067400-37076000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:37067400-37076400	Weak transcription	Aorta	Aorta
20	chr2:37067400-37083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:37067600-37074000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:37067600-37074000	Weak transcription	Left Ventricle	heart
24	chr2:37067600-37074000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:37067600-37074200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:37067600-37074200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:37067600-37075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:37067600-37075200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:37067600-37075200	Weak transcription	Ovary	ovary
30	chr2:37067600-37076200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:37067600-37076400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:37067600-37083800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
34	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
35	chr2:37067800-37074000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:37068000-37074000	Weak transcription	Brain Anterior Caudate	brain
37	chr2:37068000-37074200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:37068200-37074000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:37068200-37074000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:37068200-37074000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:37068200-37075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:37068200-37075200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:37068200-37075800	Weak transcription	NH-A	brain
44	chr2:37068400-37074600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:37068400-37074800	Weak transcription	Placenta	Placenta
46	chr2:37068400-37076200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:37068400-37076200	Weak transcription	HMEC	breast
48	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
49	chr2:37068600-37074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:37068600-37074200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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