Variant report

Variant	rs6708088
Chromosome Location	chr2:37810019-37810020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37807890..37810236-chr2:37813003..37815246,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10168778	0.90[EUR][1000 genomes]
rs10173816	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181174	0.85[EUR][1000 genomes]
rs10184801	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197948	0.90[EUR][1000 genomes]
rs10208172	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11124590	0.83[EUR][1000 genomes]
rs11124592	0.86[EUR][1000 genomes]
rs11687796	0.90[EUR][1000 genomes]
rs11888402	0.81[EUR][1000 genomes]
rs11895388	0.81[EUR][1000 genomes]
rs12615363	0.87[EUR][1000 genomes]
rs13013975	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34752978	0.81[EUR][1000 genomes]
rs35617918	0.84[EUR][1000 genomes]
rs6544093	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6710371	0.87[EUR][1000 genomes]
rs6730320	0.90[EUR][1000 genomes]
rs6733496	0.90[EUR][1000 genomes]
rs6747152	0.90[EUR][1000 genomes]
rs740992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557304	0.90[EUR][1000 genomes]
rs7560890	0.90[EUR][1000 genomes]
rs7564992	0.86[EUR][1000 genomes]
rs7587009	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs765372	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983895	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2762494	chr2:37802996-37813373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37796600-37810200	Weak transcription	Pancreas	Pancrea
2	chr2:37799200-37812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:37802000-37812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37804600-37810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37804600-37810200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:37806400-37810200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:37806600-37810400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:37808800-37818000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:37809200-37810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:37809400-37810800	Enhancers	HUVEC	blood vessel
11	chr2:37809400-37811000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:37809400-37814600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:37809400-37814600	Enhancers	Fetal Thymus	thymus
14	chr2:37809400-37817600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:37809600-37810200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:37809600-37810200	Enhancers	GM12878-XiMat	blood
17	chr2:37809600-37810400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:37809600-37810400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr2:37809600-37810400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr2:37809600-37810400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:37809600-37810400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr2:37809600-37810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:37809600-37810400	Enhancers	Brain Germinal Matrix	brain
24	chr2:37809600-37810400	Enhancers	Fetal Stomach	stomach
25	chr2:37809600-37810600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:37809600-37810600	Enhancers	Fetal Lung	lung
27	chr2:37809600-37810600	Enhancers	NH-A	brain
28	chr2:37809600-37810800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:37809600-37810800	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:37809600-37810800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:37809600-37810800	Enhancers	Thymus	Thymus
32	chr2:37809600-37810800	Flanking Active TSS	NHDF-Ad	bronchial
33	chr2:37809600-37811800	Enhancers	K562	blood
34	chr2:37809600-37813200	Enhancers	HMEC	breast
35	chr2:37809600-37816600	Enhancers	Osteobl	bone
36	chr2:37809800-37810200	Active TSS	Primary T cells fromperipheralblood	blood
37	chr2:37809800-37810200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:37809800-37810200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:37809800-37810200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:37809800-37810200	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr2:37809800-37810200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:37809800-37810200	Enhancers	HSMM	muscle
43	chr2:37809800-37810200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr2:37809800-37810400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:37809800-37810400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:37809800-37810400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:37809800-37810400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:37809800-37810400	Enhancers	Ovary	ovary
49	chr2:37809800-37810600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr2:37809800-37810600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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