Variant report

Variant	rs76540018
Chromosome Location	chr8:61698847-61698848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61697366..61699361-chr8:61701712..61703525,2	K562	blood:
2	chr8:61697795..61699599-chr8:61702942..61705336,2	MCF-7	breast:
3	chr8:61697501..61700243-chr8:61705884..61707570,2	MCF-7	breast:
4	chr8:61687942..61689827-chr8:61698388..61701380,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active 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	74 gene(s)	inside rSNPs	diseases
2	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
3	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
4	chr8:61681200-61700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
6	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
9	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:61688800-61719600	Weak transcription	NHEK	skin
14	chr8:61689400-61702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
16	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
20	chr8:61692200-61719400	Weak transcription	HMEC	breast
21	chr8:61692600-61699400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:61692800-61701000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
24	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:61694800-61704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:61694800-61708200	Weak transcription	A549	lung
28	chr8:61695000-61699600	Weak transcription	Fetal Thymus	thymus
29	chr8:61695000-61701000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:61695000-61703800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:61695000-61703800	Weak transcription	Gastric	stomach
32	chr8:61695000-61704200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:61695000-61704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:61695000-61705000	Weak transcription	Fetal Stomach	stomach
35	chr8:61695000-61705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:61695000-61705200	Weak transcription	Adipose Nuclei	Adipose
37	chr8:61695000-61705200	Weak transcription	Liver	Liver
38	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
39	chr8:61695200-61699400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:61695200-61699600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:61695200-61704600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:61695200-61704800	Weak transcription	Fetal Lung	lung
43	chr8:61695200-61704800	Weak transcription	HUVEC	blood vessel
44	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:61695400-61704800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:61695600-61703800	Weak transcription	HSMM	muscle
47	chr8:61695800-61699000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:61695800-61699000	Enhancers	Brain Anterior Caudate	brain
49	chr8:61695800-61699200	Enhancers	Brain Hippocampus Middle	brain
50	chr8:61695800-61699200	Enhancers	Brain Substantia Nigra	brain

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