Variant report

Variant	rs2753255
Chromosome Location	chr6:5235602-5235603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5229273..5236632-chr6:5256966..5263752,14	K562	blood:
2	chr6:5232470..5236352-chr6:5241278..5244100,4	K562	blood:
3	chr6:5230815..5235706-chr6:5259906..5263752,5	K562	blood:
4	chr6:5230753..5233512-chr6:5233653..5235870,3	K562	blood:

Variant related genes	Relation type
ENSG00000145982	Chromatin interaction
ENSG00000214113	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1055415	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206736	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1535041	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1570085	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1609808	0.81[ASN][1000 genomes]
rs17139748	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1884976	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1970010	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2145372	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2224391	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2746220	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2746221	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2746222	0.96[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2746224	0.82[ASN][1000 genomes]
rs2746226	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2746243	0.82[ASN][1000 genomes]
rs2753214	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2753222	0.81[ASN][1000 genomes]
rs2753223	0.81[ASN][1000 genomes]
rs2753224	0.81[ASN][1000 genomes]
rs2753228	0.81[ASN][1000 genomes]
rs2753229	0.81[ASN][1000 genomes]
rs2753230	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2753235	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2753237	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2753238	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2753239	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2753244	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2753245	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2753246	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2753248	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773287	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2773289	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2773290	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2773291	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2773294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2773296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2773298	0.81[ASN][1000 genomes]
rs2773299	0.82[ASN][1000 genomes]
rs2773302	0.80[ASN][1000 genomes]
rs2773306	0.81[ASN][1000 genomes]
rs2773307	0.81[ASN][1000 genomes]
rs2773308	0.81[ASN][1000 genomes]
rs2773311	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773314	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773316	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773317	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773318	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773319	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2773333	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2773335	0.80[AMR][1000 genomes]
rs2773336	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2773337	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2773339	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35943326	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs367803	0.92[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs374253	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs391313	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs393391	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs393454	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs399283	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs409295	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs416803	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs419778	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs421186	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs421720	1.00[CEU][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4246073	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs429031	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs429490	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs434450	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs439356	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs445711	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs447604	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4960073	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4960074	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761359	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761360	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761361	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs766339	0.81[ASN][1000 genomes]
rs766340	0.81[ASN][1000 genomes]
rs9328289	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs9378943	0.84[EUR][1000 genomes]
rs9392664	1.00[JPT][hapmap]
rs9392665	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9405807	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs9405809	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9504356	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs9504370	0.89[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
2	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:5206600-5240800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:5208200-5259800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:5208400-5239800	Weak transcription	Liver	Liver
6	chr6:5214600-5241000	Weak transcription	Brain Germinal Matrix	brain
7	chr6:5214600-5248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:5214800-5248800	Weak transcription	A549	lung
9	chr6:5215000-5241400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:5215000-5244800	Weak transcription	Gastric	stomach
11	chr6:5215000-5252600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:5215000-5257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:5215000-5259800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:5215200-5239400	Weak transcription	Aorta	Aorta
15	chr6:5215200-5239400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:5215200-5239800	Weak transcription	Esophagus	oesophagus
17	chr6:5215200-5239800	Weak transcription	Lung	lung
18	chr6:5215200-5244800	Weak transcription	Left Ventricle	heart
19	chr6:5215200-5244800	Weak transcription	Right Ventricle	heart
20	chr6:5215400-5239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:5215400-5259800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:5215600-5251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:5215600-5254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:5215600-5259800	Weak transcription	NHDF-Ad	bronchial
25	chr6:5215800-5251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:5216000-5240200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:5216200-5241200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:5216200-5251400	Weak transcription	Fetal Brain Female	brain
29	chr6:5216400-5235800	Weak transcription	Hela-S3	cervix
30	chr6:5216400-5259600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:5216600-5239400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:5216600-5239800	Weak transcription	Pancreas	Pancrea
33	chr6:5216600-5244800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:5216600-5259600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:5220000-5245600	Weak transcription	HMEC	breast
36	chr6:5220200-5240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:5220400-5240200	Weak transcription	Fetal Kidney	kidney
38	chr6:5220800-5259600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:5221000-5239400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:5222400-5253800	Weak transcription	Dnd41	blood
41	chr6:5222800-5244800	Weak transcription	Primary B cells from cord blood	blood
42	chr6:5224400-5239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:5226800-5239400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:5227800-5259800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:5230000-5245800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:5230200-5246400	Weak transcription	Fetal Lung	lung
47	chr6:5231000-5249400	Weak transcription	HSMMtube	muscle
48	chr6:5231000-5260200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:5231200-5249800	Weak transcription	HSMM	muscle
50	chr6:5231400-5236600	Weak transcription	Muscle Satellite Cultured Cells	--

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