Variant report

Variant	rs73634694
Chromosome Location	chr8:42706471-42706472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42706466..42710235-chr8:42711044..42714932,4	K562	blood:
2	chr8:42705915..42708592-chr8:42752274..42754255,2	MCF-7	breast:
3	chr8:42693857..42696163-chr8:42704938..42707697,2	K562	blood:
4	chr8:42705145..42707277-chr8:42708793..42711638,3	K562	blood:

Variant related genes	Relation type
ENSG00000120925	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11987761	0.93[AFR][1000 genomes]
rs11988193	0.86[AFR][1000 genomes]
rs11989986	0.93[AFR][1000 genomes]
rs11990955	1.00[AFR][1000 genomes]
rs11993252	0.93[AFR][1000 genomes]
rs11993799	0.93[AFR][1000 genomes]
rs11995127	0.93[AFR][1000 genomes]
rs35349171	0.93[AFR][1000 genomes]
rs55870161	1.00[EUR][1000 genomes]
rs58577394	1.00[AFR][1000 genomes]
rs59122469	0.85[AFR][1000 genomes]
rs59287971	0.85[AFR][1000 genomes]
rs59523223	1.00[AFR][1000 genomes]
rs60389831	0.86[AFR][1000 genomes]
rs73627236	0.93[AFR][1000 genomes]
rs73627289	0.85[AFR][1000 genomes]
rs73627301	0.82[AFR][1000 genomes]
rs73629105	0.82[AFR][1000 genomes]
rs73634620	0.85[AFR][1000 genomes]
rs73634630	0.92[AFR][1000 genomes]
rs73634647	1.00[AFR][1000 genomes]
rs73634656	0.93[AFR][1000 genomes]
rs73634693	1.00[AFR][1000 genomes]
rs73634697	0.93[AFR][1000 genomes]
rs73634702	0.93[AFR][1000 genomes]
rs73635307	0.93[AFR][1000 genomes]
rs73635310	1.00[AFR][1000 genomes]
rs73635330	0.93[AFR][1000 genomes]
rs73635337	0.93[AFR][1000 genomes]
rs73635339	1.00[AFR][1000 genomes]
rs73635342	1.00[AFR][1000 genomes]
rs73635343	0.93[AFR][1000 genomes]
rs73635347	0.93[AFR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42698800-42713800	Weak transcription	Spleen	Spleen
2	chr8:42699000-42708400	Weak transcription	Ovary	ovary
3	chr8:42699000-42708800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:42699000-42709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:42699000-42711400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:42699000-42713000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:42699000-42713800	Weak transcription	Gastric	stomach
8	chr8:42699000-42713800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:42699200-42711200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:42699200-42713200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:42699200-42713400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:42699200-42736400	Weak transcription	Thymus	Thymus
13	chr8:42699400-42708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:42699400-42708200	Weak transcription	Osteobl	bone
15	chr8:42699400-42708400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:42699400-42708400	Weak transcription	HSMM	muscle
17	chr8:42699400-42708400	Weak transcription	HSMMtube	muscle
18	chr8:42699400-42708400	Weak transcription	NHLF	lung
19	chr8:42699400-42708600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:42699400-42708600	Weak transcription	NHDF-Ad	bronchial
21	chr8:42699400-42709000	Weak transcription	Primary B cells from cord blood	blood
22	chr8:42699400-42709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:42699400-42709000	Weak transcription	Liver	Liver
24	chr8:42699400-42709800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:42699400-42710000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:42699400-42711200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:42699400-42711200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:42699400-42711400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:42699400-42711400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:42699400-42711400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:42699400-42711400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:42699400-42711800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:42699400-42712200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:42699400-42712200	Weak transcription	Left Ventricle	heart
35	chr8:42699400-42713000	Weak transcription	Fetal Brain Male	brain
36	chr8:42699400-42713000	Weak transcription	A549	lung
37	chr8:42699400-42713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:42699400-42713400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:42699400-42713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:42699400-42713800	Weak transcription	Aorta	Aorta
41	chr8:42699400-42713800	Weak transcription	Colonic Mucosa	Colon
42	chr8:42699400-42713800	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:42699400-42713800	Weak transcription	Fetal Kidney	kidney
44	chr8:42699400-42713800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:42699400-42717600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:42699400-42717600	Weak transcription	Esophagus	oesophagus
47	chr8:42699400-42717600	Weak transcription	Pancreas	Pancrea
48	chr8:42699400-42718000	Weak transcription	Psoas Muscle	Psoas
49	chr8:42699400-42728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:42699400-42733200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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