Variant report

Variant	rs12087318
Chromosome Location	chr1:61917815-61917816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61903528..61906527-chr1:61917425..61920115,2	K562	blood:
2	chr1:61907582..61910159-chr1:61917451..61919500,2	K562	blood:
3	chr1:61546835..61549046-chr1:61915518..61917867,3	K562	blood:
4	chr1:61802472..61805415-chr1:61917120..61919669,2	MCF-7	breast:
5	chr1:61910005..61912784-chr1:61916999..61919026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12093862	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41327150	1.00[MEX][hapmap]
rs6685664	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61900000-61918000	Weak transcription	HSMMtube	muscle
2	chr1:61902000-61918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:61903000-61928800	Weak transcription	Pancreas	Pancrea
4	chr1:61905800-61918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:61907800-61918000	Weak transcription	NHLF	lung
6	chr1:61908000-61919400	Enhancers	Fetal Muscle Leg	muscle
7	chr1:61908000-61920200	Enhancers	Adipose Nuclei	Adipose
8	chr1:61909000-61920600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:61909600-61918000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:61909600-61918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:61910200-61918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:61911600-61918800	Enhancers	Brain Hippocampus Middle	brain
13	chr1:61911800-61919000	Enhancers	Colon Smooth Muscle	Colon
14	chr1:61912200-61920400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:61913000-61918200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:61913200-61919800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:61913400-61918200	Weak transcription	K562	blood
18	chr1:61913800-61918600	Enhancers	Brain Anterior Caudate	brain
19	chr1:61914200-61920200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:61914400-61920600	Enhancers	Brain Substantia Nigra	brain
21	chr1:61914600-61918600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:61914600-61919800	Enhancers	Fetal Kidney	kidney
23	chr1:61914800-61919000	Enhancers	HepG2	liver
24	chr1:61914800-61919800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:61915000-61920200	Enhancers	Fetal Intestine Small	intestine
26	chr1:61915000-61920800	Enhancers	Brain Germinal Matrix	brain
27	chr1:61915200-61919200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:61915400-61918000	Weak transcription	HMEC	breast
29	chr1:61915400-61920000	Enhancers	Fetal Heart	heart
30	chr1:61915400-61920200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:61915600-61918200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:61915600-61919000	Enhancers	Liver	Liver
33	chr1:61915600-61919800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:61915600-61919800	Enhancers	Fetal Lung	lung
35	chr1:61915600-61920000	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:61915600-61920200	Enhancers	Fetal Intestine Large	intestine
37	chr1:61915600-61920200	Enhancers	Fetal Stomach	stomach
38	chr1:61915800-61919000	Enhancers	HUVEC	blood vessel
39	chr1:61915800-61920200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:61916000-61919600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:61916000-61921000	Weak transcription	Aorta	Aorta
42	chr1:61916200-61918600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:61916200-61919600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:61916200-61919800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:61916400-61918200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:61916400-61918600	Weak transcription	NHDF-Ad	bronchial
47	chr1:61916600-61918800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:61916600-61920000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:61916600-61921000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:61916800-61918000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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