Variant report

Variant	rs6870253
Chromosome Location	chr5:118696911-118696912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:
2	chr5:118695609..118697325-chr5:118702023..118704642,2	K562	blood:
3	chr5:118690596..118694725-chr5:118695495..118698867,4	MCF-7	breast:
4	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10059175	1.00[CHB][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs10477585	0.82[AFR][1000 genomes]
rs10519585	0.82[JPT][hapmap]
rs11957102	0.82[JPT][hapmap]
rs13155880	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs1396609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17145230	0.82[JPT][hapmap]
rs17145248	0.82[JPT][hapmap]
rs17145265	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17145294	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17385413	0.82[JPT][hapmap]
rs250298	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs250299	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs32653	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs32655	0.82[AFR][1000 genomes]
rs32657	0.82[AFR][1000 genomes]
rs32658	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs3797339	0.80[AFR][1000 genomes]
rs3797341	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3797343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3813308	0.87[YRI][hapmap]
rs408095	0.87[YRI][hapmap]
rs67328001	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6863311	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6864305	1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6869512	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6876224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6877025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6878879	0.82[JPT][hapmap]
rs6882237	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6883657	0.82[JPT][hapmap]
rs6884061	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6891084	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6896277	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6896553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6896559	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6897359	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73237292	0.82[ASN][1000 genomes]
rs73237297	0.85[ASN][1000 genomes]
rs73239278	0.93[ASN][1000 genomes]
rs73239280	0.93[ASN][1000 genomes]
rs7707470	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs996934	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv16366	chr5:118692052-118702846	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118691800-118700400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118692600-118697200	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
6	chr5:118693000-118697000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:118693000-118697800	Enhancers	Fetal Heart	heart
8	chr5:118693000-118698600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:118693000-118699800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:118693200-118698600	Weak transcription	Right Ventricle	heart
11	chr5:118693200-118698800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:118693400-118697000	Enhancers	Small Intestine	intestine
13	chr5:118693400-118697600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:118693400-118699200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:118693800-118698200	Enhancers	Adipose Nuclei	Adipose
17	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:118694400-118700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:118694600-118698200	Genic enhancers	K562	blood
23	chr5:118694600-118700400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr5:118694800-118697200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:118694800-118698000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:118694800-118698400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:118694800-118701200	Weak transcription	Fetal Lung	lung
28	chr5:118694800-118701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:118694800-118703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:118695000-118698000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:118695000-118699400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:118695000-118699800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:118695000-118701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:118695000-118702000	Weak transcription	Colonic Mucosa	Colon
35	chr5:118695000-118702400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:118695200-118697400	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:118695200-118697800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:118695200-118699600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:118695200-118703000	Genic enhancers	Primary B cells from cord blood	blood
40	chr5:118695200-118706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:118695400-118701600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:118695600-118697600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:118695600-118698600	Weak transcription	Thymus	Thymus
44	chr5:118695600-118700200	Genic enhancers	Primary T cells from cord blood	blood
45	chr5:118695800-118697000	Enhancers	Hela-S3	cervix
46	chr5:118695800-118697600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:118695800-118697600	Genic enhancers	Fetal Thymus	thymus
48	chr5:118695800-118697600	Enhancers	NHDF-Ad	bronchial
49	chr5:118695800-118698000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:118695800-118698000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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