Variant report

Variant	rs6686237
Chromosome Location	chr1:165809088-165809089
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165737816..165739553-chr1:165807597..165809420,3	MCF-7	breast:
2	chr1:165804707..165809840-chr1:165822123..165825220,4	K562	blood:
3	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10737519	0.88[ASN][1000 genomes]
rs10753694	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10800162	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10918291	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10918294	0.86[ASN][1000 genomes]
rs11590711	0.89[ASN][1000 genomes]
rs1934275	0.85[ASN][1000 genomes]
rs2185268	0.89[ASN][1000 genomes]
rs34800847	0.87[ASN][1000 genomes]
rs4483381	0.95[ASN][1000 genomes]
rs4535982	0.90[ASN][1000 genomes]
rs4548416	0.88[ASN][1000 genomes]
rs4657481	0.87[ASN][1000 genomes]
rs6426941	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6677965	0.88[ASN][1000 genomes]
rs6678380	0.88[ASN][1000 genomes]
rs6682894	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6684773	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6690966	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6702462	0.89[ASN][1000 genomes]
rs7517175	0.87[ASN][1000 genomes]
rs7539793	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
5	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:165799000-165810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:165799000-165811000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:165799000-165811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:165799000-165811800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:165799000-165811800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:165799000-165811800	Weak transcription	Fetal Stomach	stomach
13	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:165799200-165811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:165799200-165811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:165799200-165811400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:165799200-165811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:165799400-165810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:165799400-165810800	Weak transcription	NHEK	skin
21	chr1:165799400-165811000	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:165800600-165811600	Weak transcription	Fetal Brain Male	brain
23	chr1:165802600-165809600	Weak transcription	Fetal Intestine Small	intestine
24	chr1:165802800-165810600	Weak transcription	HMEC	breast
25	chr1:165802800-165810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:165802800-165810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:165802800-165810800	Weak transcription	NHDF-Ad	bronchial
28	chr1:165802800-165811200	Weak transcription	Ovary	ovary
29	chr1:165806000-165809800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:165806000-165810200	Enhancers	Pancreas	Pancrea
31	chr1:165806200-165810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:165806400-165809200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:165806400-165809600	Weak transcription	Fetal Heart	heart
34	chr1:165806400-165810800	Weak transcription	Hela-S3	cervix
35	chr1:165806400-165810800	Weak transcription	Osteobl	bone
36	chr1:165806400-165811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:165806400-165811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:165806600-165810800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:165806600-165811400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:165806800-165810800	Weak transcription	Right Ventricle	heart
41	chr1:165806800-165811400	Weak transcription	Spleen	Spleen
42	chr1:165807000-165809600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:165807000-165809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:165807000-165810600	Weak transcription	Psoas Muscle	Psoas
45	chr1:165807000-165811200	Weak transcription	Thymus	Thymus
46	chr1:165807200-165810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:165807200-165811000	Weak transcription	Fetal Brain Female	brain
48	chr1:165807400-165810200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:165807400-165810800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:165807400-165810800	Weak transcription	HSMMtube	muscle

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