Variant report

Variant	rs71565795
Chromosome Location	chr6:161602523-161602524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161590074..161592745-chr6:161601272..161602964,2	K562	blood:
2	chr6:161601030..161602968-chr6:161618366..161620488,2	K562	blood:
3	chr6:161601048..161605032-chr6:161608423..161610075,3	K562	blood:
4	chr6:161601048..161604055-chr6:161608351..161610075,3	K562	blood:
5	chr6:161602471..161604223-chr6:161623568..161625542,2	MCF-7	breast:
6	chr6:161600837..161603020-chr6:161625885..161628074,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10455875	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190406	1.00[ASN][1000 genomes]
rs12199314	1.00[ASN][1000 genomes]
rs12203149	1.00[ASN][1000 genomes]
rs12203960	1.00[ASN][1000 genomes]
rs12208953	1.00[ASN][1000 genomes]
rs13196735	1.00[ASN][1000 genomes]
rs13197494	1.00[ASN][1000 genomes]
rs1474915	1.00[ASN][1000 genomes]
rs2064719	1.00[ASN][1000 genomes]
rs2277092	1.00[ASN][1000 genomes]
rs34025755	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901905	1.00[ASN][1000 genomes]
rs6902571	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71565794	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73786015	1.00[ASN][1000 genomes]
rs7748827	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161585600-161626000	Weak transcription	Right Atrium	heart
2	chr6:161587400-161607000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:161590000-161611600	Weak transcription	HSMMtube	muscle
4	chr6:161590200-161607600	Weak transcription	HSMM	muscle
5	chr6:161590400-161606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:161591000-161607000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:161591400-161626200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:161591600-161615400	Weak transcription	Fetal Heart	heart
9	chr6:161591800-161607000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:161592000-161607000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:161592000-161609600	Weak transcription	Fetal Brain Male	brain
12	chr6:161592200-161606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:161598600-161602600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr6:161599400-161606800	Weak transcription	Osteobl	bone
15	chr6:161599800-161647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:161600000-161602600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:161600000-161604800	Weak transcription	Spleen	Spleen
18	chr6:161600000-161607200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:161600200-161606800	Weak transcription	NHDF-Ad	bronchial
20	chr6:161600200-161610000	Weak transcription	Primary T cells from cord blood	blood
21	chr6:161600400-161607000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:161600400-161619400	Weak transcription	Fetal Lung	lung
23	chr6:161600400-161626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:161600600-161603400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:161600600-161607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:161600600-161613000	Weak transcription	Primary B cells from cord blood	blood
27	chr6:161600600-161613800	Weak transcription	Fetal Brain Female	brain
28	chr6:161600800-161603800	Strong transcription	Fetal Stomach	stomach
29	chr6:161600800-161607200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:161600800-161607600	Weak transcription	Ovary	ovary
31	chr6:161600800-161608400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:161601000-161605400	Enhancers	Brain Substantia Nigra	brain
33	chr6:161601200-161602800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:161601200-161604400	Enhancers	Brain Hippocampus Middle	brain
35	chr6:161601400-161602800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:161601400-161602800	Strong transcription	Fetal Muscle Leg	muscle
37	chr6:161601400-161603600	Weak transcription	Lung	lung
38	chr6:161601400-161608000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:161601400-161610400	Weak transcription	Aorta	Aorta
40	chr6:161601400-161636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:161601600-161604400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:161601600-161605000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:161601800-161604400	Enhancers	Brain Angular Gyrus	brain
44	chr6:161601800-161604800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:161601800-161604800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:161601800-161605200	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:161601800-161609400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:161601800-161609800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:161602000-161602600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:161602000-161613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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