Variant report

Variant	rs7518078
Chromosome Location	chr1:120169586-120169587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120162586..120166440-chr1:120167182..120171199,5	K562	blood:
2	chr1:120166768..120169738-chr1:120190505..120193186,2	MCF-7	breast:
3	chr1:120167579..120169748-chr1:120230698..120233512,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs753741	1.00[AFR][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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120154800-120173600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:120156800-120169800	Weak transcription	NHDF-Ad	bronchial
3	chr1:120156800-120173800	Weak transcription	Colonic Mucosa	Colon
4	chr1:120158400-120169800	Weak transcription	NH-A	brain
5	chr1:120161000-120170200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:120161400-120169600	Weak transcription	HSMMtube	muscle
7	chr1:120161400-120169800	Weak transcription	Right Atrium	heart
8	chr1:120161600-120171600	Weak transcription	HSMM	muscle
9	chr1:120162200-120174400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:120162200-120174600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
12	chr1:120164400-120171000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:120165400-120169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:120165800-120170000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:120165800-120173600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:120165800-120173600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:120165800-120173600	Weak transcription	GM12878-XiMat	blood
18	chr1:120165800-120173600	Weak transcription	HMEC	breast
19	chr1:120165800-120173800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:120166000-120169600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:120166800-120172600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:120166800-120173800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:120166800-120173800	Weak transcription	Gastric	stomach
25	chr1:120167000-120173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:120167200-120173400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:120167800-120170200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:120168000-120173600	Weak transcription	Brain Substantia Nigra	brain
29	chr1:120168000-120173800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:120168000-120173800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:120168000-120174000	Weak transcription	Esophagus	oesophagus
32	chr1:120168200-120172800	Weak transcription	Pancreas	Pancrea
33	chr1:120168200-120173400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:120168200-120173600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:120168200-120173600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:120168200-120173600	Weak transcription	Spleen	Spleen
37	chr1:120168200-120173800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:120168400-120169800	Enhancers	Fetal Heart	heart
39	chr1:120168400-120169800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:120168400-120170200	Weak transcription	Fetal Kidney	kidney
41	chr1:120168400-120171800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:120168400-120173800	Weak transcription	Fetal Brain Female	brain
43	chr1:120168400-120173800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:120168400-120174800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:120168400-120187000	Weak transcription	K562	blood
46	chr1:120168600-120169600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:120168600-120169600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:120168600-120169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:120168600-120169800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:120168600-120169800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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