Variant report

Variant	rs9448624
Chromosome Location	chr6:79784863-79784864
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76311195..76314195-chr6:79782356..79784947,3	K562	blood:
2	chr6:79782683..79789958-chr6:79939846..79945776,22	MCF-7	breast:
3	chr6:79577225..79578806-chr6:79784648..79786637,2	K562	blood:
4	chr6:79781654..79785263-chr6:79942636..79944912,3	MCF-7	breast:
5	chr6:79784764..79788097-chr6:80246158..80249987,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118418	Chromatin interaction
ENSG00000146243	Chromatin interaction
ENSG00000270362	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000135338	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13437410	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415311	1.00[ASN][1000 genomes]
rs17723508	0.83[EUR][1000 genomes]
rs17785485	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17786528	1.00[ASN][1000 genomes]
rs45463891	1.00[ASN][1000 genomes]
rs56097110	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66511207	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890022	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890023	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890085	0.84[EUR][1000 genomes]
rs72890089	1.00[ASN][1000 genomes]
rs72891829	1.00[ASN][1000 genomes]
rs72893703	1.00[ASN][1000 genomes]
rs72902825	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902838	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902857	1.00[ASN][1000 genomes]
rs72902878	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902895	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904839	1.00[ASN][1000 genomes]
rs72904869	1.00[ASN][1000 genomes]
rs72904885	1.00[ASN][1000 genomes]
rs7738062	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751422	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443624	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443631	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9443633	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443636	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443640	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448586	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448595	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448603	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448617	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688399	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv981330	chr6:79781902-79785177	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
4	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:79742000-79785400	Weak transcription	HSMMtube	muscle
6	chr6:79755000-79785400	Weak transcription	Colonic Mucosa	Colon
7	chr6:79760600-79785400	Weak transcription	Right Ventricle	heart
8	chr6:79760600-79786800	Weak transcription	Spleen	Spleen
9	chr6:79768600-79786400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:79769800-79785400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:79770400-79785000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:79770400-79785400	Weak transcription	Thymus	Thymus
13	chr6:79770400-79786600	Weak transcription	Lung	lung
14	chr6:79770600-79785000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:79770600-79785000	Weak transcription	Hela-S3	cervix
16	chr6:79770600-79785400	Weak transcription	Liver	Liver
17	chr6:79770600-79785800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:79770600-79786000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:79773400-79785400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:79775000-79785400	Weak transcription	Fetal Stomach	stomach
21	chr6:79775200-79785800	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:79775200-79786600	Weak transcription	Pancreas	Pancrea
23	chr6:79775400-79785000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:79775400-79786600	Weak transcription	Gastric	stomach
25	chr6:79777000-79786000	Weak transcription	Left Ventricle	heart
26	chr6:79777800-79785600	Weak transcription	Fetal Thymus	thymus
27	chr6:79778200-79785000	Weak transcription	Fetal Intestine Small	intestine
28	chr6:79778200-79785800	Weak transcription	Ovary	ovary
29	chr6:79778400-79785400	Weak transcription	Psoas Muscle	Psoas
30	chr6:79779600-79785600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:79780200-79785800	Enhancers	Colon Smooth Muscle	Colon
32	chr6:79780400-79785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:79780400-79785000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:79780600-79785600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:79781000-79785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:79781000-79785000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:79781000-79785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:79781000-79785000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:79781000-79785000	Weak transcription	Stomach Mucosa	stomach
40	chr6:79781000-79785400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:79781000-79785400	Weak transcription	Aorta	Aorta
42	chr6:79781000-79785600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:79781000-79785600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:79781000-79786000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:79781000-79786000	Weak transcription	Small Intestine	intestine
46	chr6:79781800-79785400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr6:79782000-79785000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:79782200-79785000	Enhancers	Brain Hippocampus Middle	brain
49	chr6:79782200-79785600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:79782400-79785000	Weak transcription	Right Atrium	heart

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