Variant report

Variant	rs6685348
Chromosome Location	chr1:212956532-212956533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212955485..212957431-chr1:212958159..212961189,3	K562	blood:
2	chr1:212953290..212958548-chr1:212960806..212967767,9	K562	blood:
3	chr1:212782588..212784090-chr1:212954271..212956784,2	K562	blood:

Variant related genes	Relation type
ENSG00000203705	Chromatin interaction
ENSG00000117697	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11799556	1.00[AMR][1000 genomes]
rs11801740	1.00[EUR][1000 genomes]
rs11801900	1.00[AMR][1000 genomes]
rs11804851	1.00[AMR][1000 genomes]
rs11807916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019397	1.00[EUR][1000 genomes]
rs17019640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019749	1.00[AMR][1000 genomes]
rs17019770	1.00[AMR][1000 genomes]
rs28505349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41296716	1.00[EUR][1000 genomes]
rs41300963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55787749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55827218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56012560	1.00[AMR][1000 genomes]
rs56085986	1.00[EUR][1000 genomes]
rs56300028	0.94[AFR][1000 genomes]
rs60267007	1.00[EUR][1000 genomes]
rs60334006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675972	1.00[EUR][1000 genomes]
rs6684313	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138553	1.00[EUR][1000 genomes]
rs74138559	1.00[EUR][1000 genomes]
rs74138571	1.00[AMR][1000 genomes]
rs74138622	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138631	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138632	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138633	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140504	1.00[EUR][1000 genomes]
rs74140506	1.00[EUR][1000 genomes]
rs74140507	1.00[AMR][1000 genomes]
rs74140511	1.00[AMR][1000 genomes]
rs74140512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74141106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7511916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7523527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7538679	1.00[AMR][1000 genomes]
rs7549085	1.00[EUR][1000 genomes]
rs7551472	1.00[AMR][1000 genomes]
rs7551969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1010003	chr1:212944240-212986996	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	nsv947467	chr1:212954839-212957948	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
2	chr1:212895600-212964600	Weak transcription	Gastric	stomach
3	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:212923800-212957600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:212923800-212964200	Weak transcription	HMEC	breast
7	chr1:212926600-212963400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:212927400-212963400	Weak transcription	Small Intestine	intestine
9	chr1:212927400-212964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:212936600-212959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:212936600-212960200	Weak transcription	Lung	lung
12	chr1:212936600-212964400	Weak transcription	Esophagus	oesophagus
13	chr1:212941200-212964200	Weak transcription	Right Ventricle	heart
14	chr1:212942400-212964200	Weak transcription	Aorta	Aorta
15	chr1:212942600-212964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:212942800-212964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:212943200-212964200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:212943600-212957800	Weak transcription	Brain Anterior Caudate	brain
19	chr1:212944000-212956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:212944000-212958000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:212944200-212956800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:212944200-212964400	Weak transcription	Fetal Heart	heart
23	chr1:212945800-212959800	Weak transcription	Ovary	ovary
24	chr1:212948400-212960000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:212950400-212964200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:212950800-212959800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:212951800-212964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:212952400-212963000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:212952600-212963600	Weak transcription	Colonic Mucosa	Colon
30	chr1:212953000-212959800	Weak transcription	NHEK	skin
31	chr1:212953000-212964400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:212953200-212964400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:212953800-212960200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:212953800-212960200	Strong transcription	HSMM	muscle
35	chr1:212953800-212961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:212954000-212958400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:212954000-212960600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:212954000-212960600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:212954000-212960600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:212954000-212960800	Strong transcription	Placenta	Placenta
41	chr1:212954000-212961000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:212954000-212961000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:212954000-212961000	Strong transcription	Liver	Liver
44	chr1:212954000-212961000	Strong transcription	Fetal Thymus	thymus
45	chr1:212954000-212961200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:212954000-212961200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:212954200-212956800	Strong transcription	Fetal Brain Female	brain
48	chr1:212954200-212956800	Strong transcription	A549	lung
49	chr1:212954200-212957000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:212954200-212957600	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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