Variant report

Variant	rs34338088
Chromosome Location	chr7:117421544-117421545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117421064..117422690-chr7:117425053..117426761,2	K562	blood:
2	chr7:117390553..117391098-chr7:117421386..117421983,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10227037	1.00[ASN][1000 genomes]
rs10231200	1.00[ASN][1000 genomes]
rs10235887	1.00[ASN][1000 genomes]
rs10249282	1.00[ASN][1000 genomes]
rs10249647	1.00[ASN][1000 genomes]
rs10250116	1.00[ASN][1000 genomes]
rs10258876	1.00[ASN][1000 genomes]
rs10277715	1.00[ASN][1000 genomes]
rs10279510	1.00[ASN][1000 genomes]
rs11505934	1.00[ASN][1000 genomes]
rs17140401	1.00[ASN][1000 genomes]
rs17140426	1.00[ASN][1000 genomes]
rs17140428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28403532	1.00[ASN][1000 genomes]
rs28458827	1.00[ASN][1000 genomes]
rs28460732	1.00[ASN][1000 genomes]
rs28491601	1.00[ASN][1000 genomes]
rs28626909	1.00[ASN][1000 genomes]
rs34090296	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34128994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184681	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34242801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34491454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34505144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34680574	1.00[ASN][1000 genomes]
rs34739284	1.00[ASN][1000 genomes]
rs34782757	1.00[ASN][1000 genomes]
rs34844482	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35018893	0.87[AMR][1000 genomes]
rs35160894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35191087	1.00[ASN][1000 genomes]
rs35280089	1.00[ASN][1000 genomes]
rs35309708	1.00[ASN][1000 genomes]
rs35349079	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35410407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35441392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35492426	1.00[ASN][1000 genomes]
rs35500445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35522360	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35618845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714028	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35720191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35731674	1.00[ASN][1000 genomes]
rs35774527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35813124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35838987	1.00[ASN][1000 genomes]
rs35894760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35918397	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35987251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35997432	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36011009	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36036225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946763	1.00[ASN][1000 genomes]
rs6954037	1.00[ASN][1000 genomes]
rs6962570	1.00[ASN][1000 genomes]
rs6977929	1.00[ASN][1000 genomes]
rs7781185	1.00[ASN][1000 genomes]
rs7781470	1.00[ASN][1000 genomes]
rs7800765	1.00[ASN][1000 genomes]
rs9969206	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:117396600-117431200	Weak transcription	Aorta	Aorta
5	chr7:117397000-117431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:117397000-117431200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:117397000-117431600	Weak transcription	Ovary	ovary
8	chr7:117397200-117431200	Weak transcription	Pancreas	Pancrea
9	chr7:117398600-117431200	Weak transcription	Fetal Stomach	stomach
10	chr7:117400800-117431200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:117401400-117434000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:117409800-117433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:117412200-117431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:117412200-117431200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:117412400-117431200	Weak transcription	Esophagus	oesophagus
16	chr7:117417000-117425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:117417800-117425800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:117417800-117431200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:117417800-117431200	Weak transcription	Brain Germinal Matrix	brain
20	chr7:117417800-117431600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:117418000-117423000	Weak transcription	Fetal Brain Male	brain
22	chr7:117418000-117427400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:117418000-117430400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:117418000-117431200	Weak transcription	Adipose Nuclei	Adipose
25	chr7:117418000-117431200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:117418000-117431400	Weak transcription	Fetal Lung	lung
27	chr7:117418200-117423600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:117418400-117422800	Weak transcription	Fetal Brain Female	brain
29	chr7:117418400-117423400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:117418400-117430400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:117419800-117422000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:117420600-117421600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:117420600-117422000	Enhancers	Brain Anterior Caudate	brain
34	chr7:117420800-117421800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:117420800-117423600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:117421000-117422000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:117421000-117422000	Enhancers	Brain Substantia Nigra	brain
38	chr7:117421200-117422000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:117421200-117422000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:117421200-117424600	Enhancers	NHLF	lung
41	chr7:117421400-117421800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:117421400-117421800	Enhancers	GM12878-XiMat	blood
43	chr7:117421400-117424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:117421400-117431000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:117421400-117444400	Weak transcription	Fetal Heart	heart

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