Variant report

Variant	rs6682142
Chromosome Location	chr1:113458987-113458988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113456967..113459164-chr1:113460701..113463323,3	K562	blood:
2	chr1:113444785..113447653-chr1:113457108..113462049,4	K562	blood:
3	chr1:113453527..113457019-chr1:113457293..113460216,3	K562	blood:
4	chr1:113452222..113455252-chr1:113457293..113459554,4	K562	blood:
5	chr1:113445067..113447939-chr1:113458429..113462240,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10399593	0.87[EUR][1000 genomes]
rs10776763	0.93[EUR][1000 genomes]
rs10857981	0.96[EUR][1000 genomes]
rs10857982	0.95[EUR][1000 genomes]
rs10857983	0.96[EUR][1000 genomes]
rs11102559	0.88[EUR][1000 genomes]
rs11102562	0.98[EUR][1000 genomes]
rs11102565	0.96[EUR][1000 genomes]
rs11102568	0.93[EUR][1000 genomes]
rs12028967	0.94[EUR][1000 genomes]
rs12037621	0.98[EUR][1000 genomes]
rs12043035	0.95[EUR][1000 genomes]
rs1344429	0.88[EUR][1000 genomes]
rs1539625	0.94[EUR][1000 genomes]
rs2002402	0.87[EUR][1000 genomes]
rs2360009	0.87[EUR][1000 genomes]
rs4301628	0.91[EUR][1000 genomes]
rs4839273	0.91[EUR][1000 genomes]
rs57549167	0.90[EUR][1000 genomes]
rs61819971	0.83[EUR][1000 genomes]
rs61819997	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
3	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:113446600-113459600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:113446800-113459800	Weak transcription	Psoas Muscle	Psoas
6	chr1:113447400-113459200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:113447400-113459600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:113447800-113459600	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:113447800-113470200	Weak transcription	Fetal Kidney	kidney
10	chr1:113448800-113459400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:113449000-113460400	Weak transcription	Fetal Lung	lung
12	chr1:113449000-113465600	Weak transcription	Placenta	Placenta
13	chr1:113449000-113466000	Weak transcription	Esophagus	oesophagus
14	chr1:113449000-113468400	Weak transcription	Lung	lung
15	chr1:113449600-113459600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:113449600-113459600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:113449600-113459800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:113449600-113459800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:113449600-113459800	Weak transcription	Colonic Mucosa	Colon
20	chr1:113449600-113459800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:113449600-113470000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:113449600-113474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:113449600-113477200	Weak transcription	Stomach Mucosa	stomach
24	chr1:113449800-113459200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:113449800-113466000	Weak transcription	Brain Anterior Caudate	brain
26	chr1:113450000-113459600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:113450400-113459400	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:113450400-113459400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:113450400-113459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:113450400-113465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:113450400-113466200	Weak transcription	Gastric	stomach
32	chr1:113451400-113475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:113452000-113459200	Weak transcription	Thymus	Thymus
34	chr1:113452400-113470800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:113452600-113462600	Strong transcription	K562	blood
36	chr1:113452800-113473000	Strong transcription	Dnd41	blood
37	chr1:113452800-113476600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:113454400-113461600	Strong transcription	HepG2	liver
39	chr1:113454600-113459800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:113454600-113462400	Strong transcription	Liver	Liver
41	chr1:113454800-113459200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:113455000-113459800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:113455000-113462000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:113455200-113460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:113455200-113462200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:113455400-113460800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:113455400-113464000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:113455600-113460600	Strong transcription	A549	lung
49	chr1:113455800-113463000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:113455800-113472200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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