Variant report

Variant	rs62394538
Chromosome Location	chr6:25967348-25967349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25965821..25967948-chr6:25973131..25975661,2	MCF-7	breast:
2	chr12:57909761..57911469-chr6:25966764..25969575,2	K562	blood:
3	chr6:25959676..25961946-chr6:25964772..25967357,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17322552	1.00[AFR][1000 genomes]
rs2229766	1.00[AFR][1000 genomes]
rs34541321	1.00[AFR][1000 genomes]
rs62394544	1.00[AFR][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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	esv2755446	chr6:25924513-25981648	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv432857	chr6:25957109-26072445	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	451 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25963400-25970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:25964400-25971000	Weak transcription	NH-A	brain
3	chr6:25964400-25974600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:25964400-25981400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:25964600-25968400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:25964600-25968600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr6:25964600-25971400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:25964800-25967400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:25964800-25968000	Weak transcription	Fetal Kidney	kidney
10	chr6:25964800-25968600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:25964800-25968600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:25964800-25969400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:25964800-25969600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:25964800-25978800	Strong transcription	Fetal Thymus	thymus
15	chr6:25965000-25968000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:25965000-25968200	Genic enhancers	Placenta	Placenta
17	chr6:25965000-25968200	Weak transcription	Psoas Muscle	Psoas
18	chr6:25965000-25968400	Genic enhancers	Fetal Intestine Large	intestine
19	chr6:25965000-25968400	Strong transcription	Fetal Stomach	stomach
20	chr6:25965000-25968400	Genic enhancers	Lung	lung
21	chr6:25965000-25969000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:25965000-25969000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:25965000-25969400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr6:25965000-25970000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:25965000-25979200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr6:25965200-25967400	Strong transcription	HSMM	muscle
27	chr6:25965200-25968200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:25965200-25968200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:25965200-25968400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:25965200-25968400	Strong transcription	NHLF	lung
31	chr6:25965200-25968600	Genic enhancers	Fetal Intestine Small	intestine
32	chr6:25965200-25968800	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:25965200-25968800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:25965200-25968800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:25965200-25969600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr6:25965200-25971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:25965400-25967400	Weak transcription	Stomach Mucosa	stomach
38	chr6:25965400-25968600	Genic enhancers	Spleen	Spleen
39	chr6:25965400-25969200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
40	chr6:25965400-25970000	Genic enhancers	Liver	Liver
41	chr6:25965600-25968600	Genic enhancers	Duodenum Mucosa	Duodenum
42	chr6:25965600-25969200	Genic enhancers	Primary T cells from cord blood	blood
43	chr6:25965600-25969400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:25965600-25970600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:25965600-25985600	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:25965800-25968000	Strong transcription	Osteobl	bone
47	chr6:25966200-25968800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr6:25966200-25968800	Genic enhancers	HUVEC	blood vessel
49	chr6:25966200-25973000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:25966400-25967400	Genic enhancers	Gastric	stomach

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