Variant report

Variant	rs7531516
Chromosome Location	chr1:120170379-120170380
allele	A/G
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	chr1:120169996..120174289-chr1:120174706..120179786,6	MCF-7	breast:
3	chr1:120170164..120173091-chr1:120190289..120192474,2	MCF-7	breast:
4	chr1:120169616..120172603-chr1:120197300..120199612,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs347904	0.84[ASN][1000 genomes]
rs376910	0.83[AMR][1000 genomes]
rs431441	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs838985	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs838986	0.86[ASN][1000 genomes]
rs838987	0.86[ASN][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:101 , 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	chr1:120156800-120173800	Weak transcription	Colonic Mucosa	Colon
3	chr1:120161600-120171600	Weak transcription	HSMM	muscle
4	chr1:120162200-120174400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:120162200-120174600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
7	chr1:120164400-120171000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:120165800-120173600	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:120165800-120173600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:120165800-120173600	Weak transcription	GM12878-XiMat	blood
11	chr1:120165800-120173600	Weak transcription	HMEC	breast
12	chr1:120165800-120173800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:120166800-120172600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:120166800-120173800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:120166800-120173800	Weak transcription	Gastric	stomach
17	chr1:120167000-120173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:120167200-120173400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:120168000-120173600	Weak transcription	Brain Substantia Nigra	brain
20	chr1:120168000-120173800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:120168000-120173800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:120168000-120174000	Weak transcription	Esophagus	oesophagus
23	chr1:120168200-120172800	Weak transcription	Pancreas	Pancrea
24	chr1:120168200-120173400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:120168200-120173600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:120168200-120173600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:120168200-120173600	Weak transcription	Spleen	Spleen
28	chr1:120168200-120173800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:120168400-120171800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:120168400-120173800	Weak transcription	Fetal Brain Female	brain
31	chr1:120168400-120173800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:120168400-120174800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:120168400-120187000	Weak transcription	K562	blood
34	chr1:120168600-120171200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:120168600-120172000	Weak transcription	Liver	Liver
36	chr1:120168600-120173600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:120168600-120173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:120168600-120173800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:120168600-120173800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:120168800-120170600	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:120168800-120171000	Enhancers	NHLF	lung
42	chr1:120168800-120171200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:120168800-120171400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:120168800-120172000	Weak transcription	Fetal Intestine Large	intestine
45	chr1:120168800-120172400	Weak transcription	Fetal Intestine Small	intestine
46	chr1:120168800-120173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:120168800-120174000	Weak transcription	Brain Germinal Matrix	brain
48	chr1:120168800-120174600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:120168800-120175800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:120169000-120170400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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