Variant report

Variant	rs11995355
Chromosome Location	chr8:59503807-59503808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr8:59503474-59503892	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59501580..59503825-chr8:59505050..59507030,2	K562	blood:
2	chr8:59464523..59466345-chr8:59503286..59506269,2	K562	blood:

Variant related genes	Relation type
ENSG00000242970	TF binding region
NSMAF	TF binding region
ENSG00000035681	Chromatin interaction
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17204866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17264556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17264577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4574832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008292	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
14	chr8:59479200-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:59483000-59504400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr8:59483800-59504400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:59483800-59528000	Strong transcription	Dnd41	blood
21	chr8:59484000-59505600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:59484800-59505600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:59491200-59504600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:59491600-59505200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:59494000-59507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:59494400-59506400	Weak transcription	Colonic Mucosa	Colon
27	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:59495800-59506400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:59496000-59504600	Strong transcription	HSMM	muscle
30	chr8:59496000-59507000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:59496000-59507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:59496800-59507800	Weak transcription	Small Intestine	intestine
33	chr8:59497800-59504000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr8:59498200-59507400	Strong transcription	Placenta	Placenta
35	chr8:59498600-59505600	Weak transcription	Psoas Muscle	Psoas
36	chr8:59498600-59506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:59498600-59507000	Weak transcription	Fetal Kidney	kidney
38	chr8:59498600-59511200	Weak transcription	Right Ventricle	heart
39	chr8:59498600-59511800	Weak transcription	Brain Germinal Matrix	brain
40	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
41	chr8:59498800-59507000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:59499200-59506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:59499200-59506400	Weak transcription	NHEK	skin
44	chr8:59499800-59506200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:59500000-59504600	Weak transcription	A549	lung
46	chr8:59500000-59506600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:59500200-59506200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:59500200-59524600	Weak transcription	HepG2	liver
49	chr8:59500400-59506400	Weak transcription	Lung	lung
50	chr8:59500400-59506400	Weak transcription	Placenta Amnion	Placenta Amnion

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