Variant report

Variant	rs30613
Chromosome Location	chr5:14778536-14778537
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	chr5:14727546..14728089-chr5:14778195..14778972,2	MCF-7	breast:
2	chr5:14774249..14779166-chr5:14785300..14788951,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1620976	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs1679138	0.84[ASN][1000 genomes]
rs174018	0.85[ASN][1000 genomes]
rs2448493	0.91[ASN][1000 genomes]
rs2453320	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs258220	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs258226	0.85[YRI][hapmap]
rs258232	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs25946	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs25957	0.95[YRI][hapmap]
rs26304	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs26305	0.85[ASN][1000 genomes]
rs26306	0.94[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs27353	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs28006	0.95[YRI][hapmap]
rs30614	0.85[ASN][1000 genomes]
rs31907	0.90[ASN][1000 genomes]
rs31910	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs31911	0.93[CHB][hapmap];0.88[ASN][1000 genomes]
rs31917	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs31931	0.85[ASN][1000 genomes]
rs31933	0.90[YRI][hapmap]
rs31987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs31988	0.93[ASN][1000 genomes]
rs31989	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs31990	0.87[CHB][hapmap];0.90[ASN][1000 genomes]
rs379016	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs39917	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40402	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs412056	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs42274	0.92[ASN][1000 genomes]
rs43178	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826351	0.84[ASN][1000 genomes]
rs826355	0.83[ASN][1000 genomes]
rs826356	0.94[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs826358	0.93[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs879253	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:14753600-14790000	Weak transcription	Ovary	ovary
4	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:14756800-14779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:14756800-14780200	Weak transcription	Fetal Stomach	stomach
7	chr5:14756800-14781200	Weak transcription	Thymus	Thymus
8	chr5:14758800-14783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:14766600-14780000	Weak transcription	Fetal Intestine Large	intestine
11	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:14768400-14789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:14768600-14779400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:14768600-14790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:14768600-14790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:14768600-14790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:14768600-14790200	Weak transcription	Dnd41	blood
18	chr5:14768800-14779000	Weak transcription	Primary T cells from cord blood	blood
19	chr5:14769000-14780800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:14769200-14789400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:14769400-14778800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:14769400-14790600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:14769400-14790600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:14774000-14780800	Weak transcription	Brain Angular Gyrus	brain
25	chr5:14775200-14779800	Strong transcription	Fetal Intestine Small	intestine
26	chr5:14775600-14779600	Enhancers	Left Ventricle	heart
27	chr5:14775600-14783800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:14776000-14780800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:14776400-14780600	Weak transcription	Hela-S3	cervix
30	chr5:14776400-14785400	Weak transcription	Spleen	Spleen
31	chr5:14776800-14779800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:14776800-14781000	Weak transcription	Brain Anterior Caudate	brain
33	chr5:14776800-14784400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:14776800-14790200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:14776800-14809400	Weak transcription	HMEC	breast
36	chr5:14777000-14779600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:14777000-14781400	Weak transcription	Fetal Thymus	thymus
38	chr5:14777000-14788200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:14777000-14790000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:14777000-14794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:14777200-14781200	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
45	chr5:14777400-14778800	Enhancers	Brain Substantia Nigra	brain
46	chr5:14777400-14780000	Enhancers	Brain Hippocampus Middle	brain
47	chr5:14777400-14782600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:14777600-14779000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:14777600-14779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:14777600-14779600	Enhancers	Liver	Liver

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