Variant report

Variant	rs1969701
Chromosome Location	chr6:36633698-36633699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36631478..36636279-chr6:36645838..36648638,4	K562	blood:
2	chr6:36621309..36623042-chr6:36633695..36636161,2	K562	blood:
3	chr6:36628825..36632720-chr6:36633397..36637228,8	MCF-7	breast:
4	chr6:36630192..36637203-chr6:36642841..36649451,13	K562	blood:
5	chr6:36608940..36611586-chr6:36633683..36636371,2	MCF-7	breast:
6	chr6:36625867..36628028-chr6:36633354..36635356,2	MCF-7	breast:
7	chr6:36609889..36612483-chr6:36632704..36634800,2	MCF-7	breast:
8	chr6:36631889..36633994-chr6:36649894..36652299,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1321312	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977172	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3176330	0.92[ASN][1000 genomes]
rs3176331	0.85[ASN][1000 genomes]
rs3829966	0.93[ASN][1000 genomes]
rs3829967	0.93[ASN][1000 genomes]
rs3829968	0.90[ASN][1000 genomes]
rs4135234	0.94[ASN][1000 genomes]
rs4135237	0.93[ASN][1000 genomes]
rs4135239	0.93[ASN][1000 genomes]
rs4713997	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714000	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457936	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6902994	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6907801	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926780	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7452626	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762623	0.93[ASN][1000 genomes]
rs9380585	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380586	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv602946	chr6:36633160-36641478	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36627800-36634000	Weak transcription	HMEC	breast
2	chr6:36627800-36634000	Weak transcription	HSMM	muscle
3	chr6:36628200-36636600	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:36629000-36633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:36629200-36634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:36629200-36634200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:36629200-36634600	Weak transcription	Liver	Liver
8	chr6:36629200-36634800	Weak transcription	Right Atrium	heart
9	chr6:36629200-36635000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:36629200-36635000	Weak transcription	Right Ventricle	heart
11	chr6:36629400-36634600	Weak transcription	Adipose Nuclei	Adipose
12	chr6:36630800-36634200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:36630800-36634200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:36630800-36635000	Weak transcription	Fetal Heart	heart
15	chr6:36631000-36634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:36631000-36634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:36631000-36634200	Weak transcription	Colonic Mucosa	Colon
18	chr6:36631000-36644000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:36631200-36634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:36631200-36634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:36631200-36634000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:36631200-36634000	Weak transcription	Pancreas	Pancrea
23	chr6:36631200-36634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:36631200-36634200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:36631200-36634200	Weak transcription	Esophagus	oesophagus
26	chr6:36631400-36633800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:36631400-36633800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:36631400-36633800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:36631400-36634000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:36631400-36634000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:36631400-36634000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:36631400-36634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:36631400-36634000	Weak transcription	Fetal Intestine Large	intestine
34	chr6:36631400-36634000	Weak transcription	NHEK	skin
35	chr6:36631400-36634200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:36631400-36634200	Weak transcription	Fetal Intestine Small	intestine
37	chr6:36631400-36634200	Weak transcription	Placenta	Placenta
38	chr6:36631400-36634200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:36631600-36634000	Weak transcription	Hela-S3	cervix
40	chr6:36631800-36634200	Weak transcription	K562	blood
41	chr6:36631800-36634200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:36631800-36634400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:36631800-36635600	Weak transcription	Fetal Thymus	thymus
44	chr6:36632000-36638800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:36632200-36634200	Weak transcription	Fetal Kidney	kidney
46	chr6:36632800-36634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:36632800-36634200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr6:36632800-36634200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:36633000-36634600	Weak transcription	Primary B cells from cord blood	blood
50	chr6:36633200-36634000	Enhancers	GM12878-XiMat	blood

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