Variant report

Variant	rs62524593
Chromosome Location	chr8:131000156-131000157
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130995347..130998330-chr8:130998727..131000228,2	MCF-7	breast:
2	chr8:130994427..130996216-chr8:130998124..131000537,2	MCF-7	breast:
3	chr8:130996585..131001100-chr8:131002410..131006763,8	K562	blood:
4	chr8:130998847..131001129-chr8:131027187..131029105,2	MCF-7	breast:
5	chr8:130999535..131002267-chr8:131027934..131030613,2	MCF-7	breast:
6	chr8:130984372..130987995-chr8:130999430..131001156,3	K562	blood:
7	chr8:130999286..131001755-chr8:131008650..131010695,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10100858	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956506	0.81[ASN][1000 genomes]
rs13271197	0.96[ASN][1000 genomes]
rs16904184	0.95[ASN][1000 genomes]
rs16904185	0.96[ASN][1000 genomes]
rs1812141	0.97[ASN][1000 genomes]
rs2065409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065410	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395952	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395953	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34112957	0.87[ASN][1000 genomes]
rs35782876	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4733755	0.85[ASN][1000 genomes]
rs4733756	0.83[ASN][1000 genomes]
rs874580	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874581	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874582	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882447	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921693	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
2	chr8:130993400-131000200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:130994800-131001000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:130994800-131001600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:130995800-131000200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:130996000-131001400	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:130996000-131001600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:130996200-131000600	Enhancers	Lung	lung
9	chr8:130996200-131000800	Enhancers	Spleen	Spleen
10	chr8:130996600-131000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:130996600-131009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:130996800-131000600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:130996800-131001800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:130996800-131004000	Weak transcription	K562	blood
16	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
17	chr8:130997000-131000600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:130997000-131000600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:130997000-131000800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:130997000-131000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:130997000-131001800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:130997000-131004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:130997000-131006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:130997000-131006800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:130997000-131006800	Weak transcription	Right Atrium	heart
26	chr8:130997000-131007000	Weak transcription	HSMMtube	muscle
27	chr8:130997000-131007600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:130997000-131008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:130997000-131008600	Weak transcription	Osteobl	bone
30	chr8:130997000-131009800	Weak transcription	Fetal Heart	heart
31	chr8:130997400-131000400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:130997400-131000800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:130997600-131000200	Enhancers	GM12878-XiMat	blood
34	chr8:130997600-131007200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:130997800-131000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:130997800-131001400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr8:130997800-131004800	Weak transcription	HSMM	muscle
38	chr8:130998400-131000400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:130998400-131000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:130998400-131000800	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:130998400-131006600	Weak transcription	Esophagus	oesophagus
42	chr8:130998400-131006800	Weak transcription	Small Intestine	intestine
43	chr8:130998400-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:130998400-131007400	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:130998400-131008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:130998400-131009000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
48	chr8:130998600-131000400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:130998600-131007000	Weak transcription	Hela-S3	cervix
50	chr8:130998600-131009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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