Variant report

Variant	rs12705181
Chromosome Location	chr7:103814044-103814045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103811783..103814415-chr7:103819771..103821551,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1035169	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808128	0.95[ASN][1000 genomes]
rs10953408	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs113877	0.89[ASN][1000 genomes]
rs12056186	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056191	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705180	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705184	0.85[ASN][1000 genomes]
rs12705187	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705188	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12705190	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705191	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12705192	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12705195	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13230700	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238183	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs193888	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs194833	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs194834	0.80[EUR][1000 genomes]
rs194837	0.87[ASN][1000 genomes]
rs194838	0.87[ASN][1000 genomes]
rs194841	0.90[ASN][1000 genomes]
rs194846	0.89[ASN][1000 genomes]
rs194847	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs194849	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs194851	0.89[ASN][1000 genomes]
rs194857	0.89[ASN][1000 genomes]
rs194858	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs194859	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs194861	0.88[ASN][1000 genomes]
rs194865	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs194867	0.89[ASN][1000 genomes]
rs194868	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2160397	0.96[ASN][1000 genomes]
rs2245659	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299408	0.89[ASN][1000 genomes]
rs2299409	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299411	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385140	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34096272	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35034355	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3757734	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779518	0.95[ASN][1000 genomes]
rs3808008	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3808009	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808010	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3823979	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4140860	0.90[ASN][1000 genomes]
rs4265123	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4265124	0.87[ASN][1000 genomes]
rs4385404	0.86[ASN][1000 genomes]
rs4461830	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62485910	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948583	0.95[ASN][1000 genomes]
rs6961262	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6967757	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs765408	0.87[ASN][1000 genomes]
rs7781828	0.90[ASN][1000 genomes]
rs9768749	0.84[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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103763800-103815000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:103764400-103820200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:103765600-103815000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
6	chr7:103766200-103816000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:103766200-103823600	Weak transcription	Esophagus	oesophagus
8	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
9	chr7:103766400-103822600	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:103767200-103829200	Weak transcription	Gastric	stomach
11	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
12	chr7:103767600-103820200	Weak transcription	Brain Germinal Matrix	brain
13	chr7:103769200-103822600	Weak transcription	Fetal Kidney	kidney
14	chr7:103771800-103820000	Weak transcription	NHEK	skin
15	chr7:103773200-103822800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:103775200-103829200	Weak transcription	Lung	lung
17	chr7:103776800-103820200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:103776800-103822800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:103777000-103819600	Weak transcription	Fetal Brain Female	brain
20	chr7:103777200-103819400	Weak transcription	GM12878-XiMat	blood
21	chr7:103777400-103819800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:103779200-103815000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:103779200-103815000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:103781600-103822800	Weak transcription	HSMMtube	muscle
25	chr7:103781800-103822400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:103791200-103822800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:103791800-103819200	Weak transcription	HepG2	liver
28	chr7:103792800-103815000	Weak transcription	Aorta	Aorta
29	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
30	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
31	chr7:103797400-103822600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:103797600-103817000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:103798400-103815000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:103798600-103819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:103800000-103822200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:103800200-103815000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:103800800-103829600	Weak transcription	NHLF	lung
39	chr7:103801800-103818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
41	chr7:103802400-103822600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:103804200-103823000	Weak transcription	Thymus	Thymus
43	chr7:103804200-103824800	Weak transcription	Pancreas	Pancrea
44	chr7:103804800-103820200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:103805000-103819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:103805000-103821800	Weak transcription	Fetal Stomach	stomach
47	chr7:103805000-103822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:103805200-103815000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:103805200-103816000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:103805200-103816200	Weak transcription	Brain Hippocampus Middle	brain

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