Variant report

Variant	rs73634666
Chromosome Location	chr8:42697385-42697386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:42696684..42700108-chr8:42749367..42753632,16	K562	blood:
2	chr8:42395062..42397494-chr8:42696169..42697803,2	MCF-7	breast:
3	chr8:42695291..42700486-chr8:42749376..42753818,20	K562	blood:
4	chr8:42696480..42700026-chr8:42910062..42913362,8	K562	blood:
5	chr8:42695855..42700016-chr8:42746812..42754296,18	MCF-7	breast:
6	chr8:42696846..42699978-chr8:42747946..42753140,10	MCF-7	breast:
7	chr8:42696228..42698600-chr8:42913525..42916456,2	K562	blood:
8	chr8:42395141..42398795-chr8:42696735..42698902,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176209	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000168522	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000168575	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10453137	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984732	1.00[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes]
rs11987452	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes]
rs11988227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes]
rs11990369	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11991133	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992397	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes]
rs11992682	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11993667	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11994318	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11995473	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes]
rs11997992	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17622134	1.00[EUR][1000 genomes]
rs17694846	0.95[EUR][1000 genomes]
rs2194902	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28799623	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34489103	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35506493	0.85[AFR][1000 genomes]
rs57363090	0.81[EUR][1000 genomes]
rs57986156	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58081556	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58384533	0.95[EUR][1000 genomes]
rs58641534	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes]
rs59213790	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59531993	1.00[EUR][1000 genomes]
rs59805921	0.95[EUR][1000 genomes]
rs60443202	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61733908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7004940	0.81[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627229	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627242	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627249	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627252	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627261	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627273	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627274	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627276	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627278	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627280	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627282	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627288	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627294	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629103	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629110	1.00[AMR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes]
rs73634652	0.81[AFR][1000 genomes]
rs73634659	0.87[EUR][1000 genomes]
rs73634670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634696	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635313	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635316	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73635325	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635345	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635352	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635362	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635364	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635366	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635368	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635370	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7820326	1.00[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];0.90[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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42670000-42697400	Weak transcription	Right Ventricle	heart
2	chr8:42679600-42697400	Weak transcription	Aorta	Aorta
3	chr8:42688600-42697600	Weak transcription	Spleen	Spleen
4	chr8:42688800-42697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:42690400-42697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:42690800-42697600	Weak transcription	Esophagus	oesophagus
7	chr8:42690800-42697600	Weak transcription	Small Intestine	intestine
8	chr8:42692000-42697600	Weak transcription	Lung	lung
9	chr8:42693800-42697400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:42693800-42697400	Weak transcription	Left Ventricle	heart
11	chr8:42693800-42697400	Weak transcription	Ovary	ovary
12	chr8:42693800-42697600	Weak transcription	Gastric	stomach
13	chr8:42695000-42697400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:42695000-42697400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:42695200-42697400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr8:42695200-42697400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:42695200-42697600	Weak transcription	Stomach Mucosa	stomach
18	chr8:42695400-42697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:42695400-42697600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:42695400-42697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:42695400-42697600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:42695600-42697400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:42696200-42697400	Flanking Active TSS	Dnd41	blood
24	chr8:42696400-42697400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:42696600-42697400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:42696600-42697400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:42696600-42697400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:42696600-42697400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:42696600-42697600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:42696600-42697800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:42696600-42698800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:42696600-42699200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:42696600-42699200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:42696800-42697400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:42696800-42697400	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:42696800-42697400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:42696800-42697400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:42696800-42697400	Enhancers	Brain Substantia Nigra	brain
39	chr8:42696800-42697400	Flanking Active TSS	Fetal Brain Female	brain
40	chr8:42696800-42697400	Flanking Active TSS	HUVEC	blood vessel
41	chr8:42696800-42697600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:42696800-42697600	Flanking Active TSS	Liver	Liver
43	chr8:42696800-42697600	Weak transcription	Pancreas	Pancrea
44	chr8:42696800-42697800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr8:42696800-42697800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:42696800-42699000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:42696800-42699200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:42696800-42699200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:42696800-42699200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:42696800-42699200	Active TSS	Psoas Muscle	Psoas

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