Variant report

Variant	rs12082781
Chromosome Location	chr1:61708600-61708601
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61705176..61707440-chr1:61708242..61713126,6	K562	blood:
2	chr1:61695940..61697862-chr1:61707751..61709468,2	K562	blood:
3	chr1:61706948..61709963-chr1:61716553..61719225,3	K562	blood:

Variant related genes	Relation type
ENSG00000237853	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs162878	1.00[YRI][hapmap]
rs167987	1.00[YRI][hapmap]
rs333136	1.00[YRI][hapmap]
rs333142	1.00[YRI][hapmap]
rs333147	1.00[YRI][hapmap]
rs333148	1.00[YRI][hapmap]
rs333160	1.00[YRI][hapmap]
rs333161	1.00[YRI][hapmap]
rs333162	1.00[YRI][hapmap]
rs333165	1.00[YRI][hapmap]
rs333166	1.00[YRI][hapmap]
rs334690	1.00[YRI][hapmap]
rs4244151	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
8	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61703600-61713600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:61704600-61713400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:61704600-61713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:61705400-61715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:61706600-61710400	Enhancers	Liver	Liver
7	chr1:61706800-61710400	Enhancers	HepG2	liver
8	chr1:61707000-61709000	Enhancers	Fetal Stomach	stomach
9	chr1:61707000-61709800	Weak transcription	NHDF-Ad	bronchial
10	chr1:61707000-61710200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:61707200-61709400	Weak transcription	HUVEC	blood vessel
12	chr1:61707200-61713400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:61707400-61718800	Weak transcription	Gastric	stomach
15	chr1:61707600-61709600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:61707600-61709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:61707600-61709800	Weak transcription	Esophagus	oesophagus
18	chr1:61707600-61709800	Weak transcription	HMEC	breast
19	chr1:61707600-61709800	Weak transcription	Osteobl	bone
20	chr1:61707600-61710000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:61707600-61710200	Enhancers	Fetal Heart	heart
22	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:61707800-61709600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:61707800-61709800	Weak transcription	Right Ventricle	heart
25	chr1:61707800-61710400	Enhancers	Brain Anterior Caudate	brain
26	chr1:61707800-61710400	Enhancers	Fetal Brain Male	brain
27	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
28	chr1:61708000-61708600	Enhancers	Adipose Nuclei	Adipose
29	chr1:61708000-61708600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:61708000-61708600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:61708000-61708800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:61708000-61708800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:61708000-61709000	Enhancers	Brain Germinal Matrix	brain
34	chr1:61708000-61709400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:61708000-61709600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:61708000-61709600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:61708000-61709600	Weak transcription	Brain Angular Gyrus	brain
38	chr1:61708000-61709800	Weak transcription	Aorta	Aorta
39	chr1:61708000-61709800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:61708000-61709800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:61708000-61709800	Weak transcription	Fetal Brain Female	brain
42	chr1:61708000-61709800	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:61708000-61709800	Weak transcription	Left Ventricle	heart
44	chr1:61708000-61709800	Weak transcription	Ovary	ovary
45	chr1:61708000-61709800	Weak transcription	Pancreas	Pancrea
46	chr1:61708000-61709800	Weak transcription	Psoas Muscle	Psoas
47	chr1:61708000-61709800	Weak transcription	Right Atrium	heart
48	chr1:61708000-61709800	Weak transcription	K562	blood
49	chr1:61708000-61710000	Weak transcription	Small Intestine	intestine
50	chr1:61708000-61710000	Weak transcription	NHLF	lung

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