Variant report

Variant	rs4360308
Chromosome Location	chr8:126202988-126202989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126202633..126205386-chr8:126440752..126443830,3	MCF-7	breast:
2	chr8:126201987..126204200-chr8:126232600..126234162,2	K562	blood:
3	chr8:126202921..126205556-chr8:126450247..126452721,2	K562	blood:
4	chr8:126191466..126196398-chr8:126202580..126205039,4	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs12681602	0.81[CEU][hapmap]
rs13249982	0.82[CEU][hapmap]
rs13253942	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264500	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13267325	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56135036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][1000 genomes]
rs7461756	0.90[CEU][hapmap]
rs868227	0.90[CEU][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
2	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
5	chr8:126187400-126204000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:126189200-126203600	Weak transcription	Small Intestine	intestine
7	chr8:126189200-126204400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:126194200-126226000	Weak transcription	Ovary	ovary
9	chr8:126194400-126204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:126197400-126203400	Weak transcription	Stomach Mucosa	stomach
11	chr8:126198800-126214000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:126199000-126203400	Weak transcription	K562	blood
13	chr8:126199400-126203600	ZNF genes & repeats	GM12878-XiMat	blood
14	chr8:126199600-126203800	Weak transcription	Fetal Heart	heart
15	chr8:126200800-126203000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:126200800-126203600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:126200800-126216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:126201000-126217000	Weak transcription	Hela-S3	cervix
19	chr8:126201200-126203600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:126201200-126213800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:126201400-126219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:126201600-126203000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:126201600-126203000	Strong transcription	Dnd41	blood
25	chr8:126201600-126203400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:126201600-126203600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:126201600-126203600	Weak transcription	Fetal Intestine Large	intestine
28	chr8:126201600-126203600	Weak transcription	HepG2	liver
29	chr8:126201600-126203600	Weak transcription	HUVEC	blood vessel
30	chr8:126201600-126203800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:126201600-126204400	Strong transcription	Primary T cells from cord blood	blood
32	chr8:126201600-126204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:126201600-126213200	Weak transcription	Fetal Lung	lung
34	chr8:126201600-126216400	Weak transcription	Aorta	Aorta
35	chr8:126201600-126217000	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:126201600-126218000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:126201600-126218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:126201600-126224000	Weak transcription	Liver	Liver
39	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:126201800-126203000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:126201800-126203000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:126201800-126203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:126201800-126203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:126201800-126203600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:126201800-126203600	Weak transcription	HMEC	breast
48	chr8:126201800-126203800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:126201800-126203800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:126201800-126203800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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