Variant report

Variant	rs2630164
Chromosome Location	chr3:60042183-60042184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17061880	0.82[CHD][hapmap]
rs191926	0.86[ASN][1000 genomes]
rs191927	1.00[CHB][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs212006	0.88[CHB][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs212009	0.86[ASN][1000 genomes]
rs212011	0.86[ASN][1000 genomes]
rs2630154	0.86[ASN][1000 genomes]
rs2736812	0.84[CHB][hapmap]
rs3856667	0.83[ASN][1000 genomes]
rs3856668	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7640460	0.95[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	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60034600-60044400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:60035000-60043200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr3:60035000-60043200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr3:60038000-60042800	Enhancers	Thymus	Thymus
5	chr3:60038200-60042800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr3:60038200-60043600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:60038600-60043000	Enhancers	Primary T cells from cord blood	blood
8	chr3:60039400-60043200	Enhancers	Fetal Thymus	thymus
9	chr3:60040800-60042800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:60040800-60042800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:60040800-60042800	Enhancers	Psoas Muscle	Psoas
12	chr3:60040800-60042800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr3:60041000-60043000	Enhancers	Fetal Heart	heart
14	chr3:60041000-60049000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:60041200-60042200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:60041200-60042800	Enhancers	Fetal Muscle Leg	muscle
17	chr3:60041200-60043000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr3:60041400-60042200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:60041400-60042200	Enhancers	NHEK	skin
20	chr3:60041400-60042400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:60041400-60042400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:60041600-60042200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:60041600-60042400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:60041600-60042400	Enhancers	Fetal Stomach	stomach
25	chr3:60041600-60042600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:60041600-60042600	Enhancers	Brain Germinal Matrix	brain
27	chr3:60041800-60042200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:60041800-60042200	Enhancers	Dnd41	blood
29	chr3:60041800-60042600	Enhancers	HSMMtube	muscle
30	chr3:60041800-60043000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:60042000-60042400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:60042000-60051600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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