Variant report

Variant	rs6470342
Chromosome Location	chr8:126203379-126203380
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:
5	chr8:125322529..125324874-chr8:126203230..126205002,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094316	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100556	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112218	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986135	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2384859	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2891630	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870935	0.91[ASN][1000 genomes]
rs5007394	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470338	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470339	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470343	0.85[AMR][1000 genomes]
rs6470344	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995096	0.91[ASN][1000 genomes]
rs7000553	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813225	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816430	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817794	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7836427	0.93[EUR][1000 genomes];0.95[ASN][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	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:88 , 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	chr8:126200800-126203600	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:126200800-126216200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:126201000-126217000	Weak transcription	Hela-S3	cervix
18	chr8:126201200-126203600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:126201200-126213800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:126201400-126219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:126201600-126203400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:126201600-126203600	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:126201600-126203600	Weak transcription	Fetal Intestine Large	intestine
25	chr8:126201600-126203600	Weak transcription	HepG2	liver
26	chr8:126201600-126203600	Weak transcription	HUVEC	blood vessel
27	chr8:126201600-126203800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:126201600-126204400	Strong transcription	Primary T cells from cord blood	blood
29	chr8:126201600-126204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:126201600-126213200	Weak transcription	Fetal Lung	lung
31	chr8:126201600-126216400	Weak transcription	Aorta	Aorta
32	chr8:126201600-126217000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:126201600-126218000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:126201600-126218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:126201600-126224000	Weak transcription	Liver	Liver
36	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:126201800-126203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:126201800-126203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:126201800-126203600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:126201800-126203600	Weak transcription	HMEC	breast
43	chr8:126201800-126203800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:126201800-126203800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:126201800-126203800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:126201800-126203800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:126201800-126204000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:126201800-126204400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:126201800-126204800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:126201800-126207000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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