Variant report

Variant	rs62385044
Chromosome Location	chr6:5208192-5208193
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	chr6:5203877..5206736-chr6:5207600..5210343,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62385014	1.00[AFR][1000 genomes]
rs62385047	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62385049	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
2	chr6:5180200-5212200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:5180600-5208200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:5182000-5213600	Weak transcription	Gastric	stomach
5	chr6:5189000-5213200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:5192800-5213000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:5193200-5212400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:5194000-5220800	Weak transcription	GM12878-XiMat	blood
9	chr6:5201200-5208800	Enhancers	Fetal Muscle Leg	muscle
10	chr6:5201600-5213400	Weak transcription	Fetal Brain Male	brain
11	chr6:5201800-5213400	Weak transcription	Fetal Brain Female	brain
12	chr6:5202000-5212800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:5202800-5208400	Enhancers	Brain Anterior Caudate	brain
14	chr6:5202800-5213600	Weak transcription	Dnd41	blood
15	chr6:5203200-5210000	Enhancers	Fetal Stomach	stomach
16	chr6:5203400-5208600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:5203600-5210400	Enhancers	Colon Smooth Muscle	Colon
18	chr6:5203800-5208400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:5203800-5209000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:5203800-5213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:5204000-5208600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:5204200-5208400	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:5204200-5208600	Enhancers	Fetal Kidney	kidney
24	chr6:5204200-5209400	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:5204400-5208600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:5204400-5213000	Weak transcription	Hela-S3	cervix
27	chr6:5204600-5208800	Enhancers	Brain Angular Gyrus	brain
28	chr6:5204800-5208200	Enhancers	NHDF-Ad	bronchial
29	chr6:5204800-5208400	Enhancers	Liver	Liver
30	chr6:5204800-5208800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:5205200-5208600	Enhancers	Aorta	Aorta
32	chr6:5205600-5208200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:5205600-5212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:5205600-5213000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:5205600-5213400	Weak transcription	Fetal Thymus	thymus
36	chr6:5205600-5218800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:5205600-5220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:5205600-5223000	Weak transcription	Right Atrium	heart
39	chr6:5205800-5208600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:5206200-5214800	Weak transcription	Esophagus	oesophagus
41	chr6:5206200-5215600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:5206200-5215600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:5206400-5212600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:5206400-5213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:5206400-5214000	Weak transcription	Spleen	Spleen
47	chr6:5206400-5219400	Weak transcription	HMEC	breast
48	chr6:5206600-5208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:5206600-5208400	Weak transcription	NH-A	brain
50	chr6:5206600-5208600	Enhancers	Stomach Smooth Muscle	stomach

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