Variant report

Variant	rs28626909
Chromosome Location	chr7:117435964-117435965
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	7:116651084-116657331..7:117434816-117436154	H1-hESC	embryonic stem cell:	embryo
2	7:117432820-117434816..7:117434816-117436154	GM12878	blood:
3	7:116957165-116964911..7:117434816-117436154	H1-hESC	embryonic stem cell:	embryo
4	chr7:117430433..117432974-chr7:117435592..117438238,2	K562	blood:
5	7:117100350-117112126..7:117434816-117436154	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000105989	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000077063	Chromatin interaction

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	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235887	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249282	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249647	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250116	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277715	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279510	1.00[ASN][1000 genomes]
rs11505934	1.00[ASN][1000 genomes]
rs17140401	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140426	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140428	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]
rs28744472	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34090296	1.00[ASN][1000 genomes]
rs34128994	1.00[ASN][1000 genomes]
rs34184681	1.00[ASN][1000 genomes]
rs34242801	1.00[ASN][1000 genomes]
rs34338088	1.00[ASN][1000 genomes]
rs34469059	1.00[ASN][1000 genomes]
rs34491454	1.00[ASN][1000 genomes]
rs34505144	1.00[ASN][1000 genomes]
rs34680574	1.00[ASN][1000 genomes]
rs34739284	1.00[ASN][1000 genomes]
rs34782757	1.00[ASN][1000 genomes]
rs34844482	1.00[ASN][1000 genomes]
rs35160894	1.00[ASN][1000 genomes]
rs35191087	1.00[ASN][1000 genomes]
rs35280089	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309708	1.00[ASN][1000 genomes]
rs35349079	1.00[ASN][1000 genomes]
rs35410407	1.00[ASN][1000 genomes]
rs35441392	1.00[ASN][1000 genomes]
rs35492426	1.00[ASN][1000 genomes]
rs35522360	1.00[ASN][1000 genomes]
rs35618845	1.00[ASN][1000 genomes]
rs35714028	1.00[ASN][1000 genomes]
rs35720191	1.00[ASN][1000 genomes]
rs35731674	1.00[ASN][1000 genomes]
rs35774527	1.00[ASN][1000 genomes]
rs35813124	1.00[ASN][1000 genomes]
rs35838987	1.00[ASN][1000 genomes]
rs35894760	1.00[ASN][1000 genomes]
rs35918397	1.00[ASN][1000 genomes]
rs35997432	1.00[ASN][1000 genomes]
rs36011009	1.00[ASN][1000 genomes]
rs36036225	1.00[ASN][1000 genomes]
rs6466623	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6946763	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954037	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962570	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971495	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6977929	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781185	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781470	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800765	1.00[ASN][1000 genomes]
rs9969206	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:117421400-117444400	Weak transcription	Fetal Heart	heart
3	chr7:117428400-117448600	Weak transcription	Fetal Kidney	kidney
4	chr7:117431800-117447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:117432200-117453000	Weak transcription	Aorta	Aorta
6	chr7:117432400-117437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:117432400-117447600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:117432400-117447800	Weak transcription	Brain Germinal Matrix	brain
9	chr7:117432600-117436800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:117432600-117437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:117432600-117437200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:117432600-117437200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:117432600-117437200	Weak transcription	Fetal Brain Male	brain
14	chr7:117432600-117446000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:117432600-117446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:117432600-117447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:117432600-117447800	Weak transcription	Fetal Lung	lung
18	chr7:117432600-117448800	Weak transcription	Fetal Intestine Small	intestine
19	chr7:117432800-117437000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:117432800-117437000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:117432800-117441000	Weak transcription	NHLF	lung
22	chr7:117432800-117445200	Weak transcription	Fetal Brain Female	brain
23	chr7:117432800-117446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:117432800-117447600	Weak transcription	Adipose Nuclei	Adipose
25	chr7:117432800-117448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:117432800-117451800	Weak transcription	Fetal Stomach	stomach
27	chr7:117433000-117437000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:117433000-117440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:117433800-117444000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:117433800-117444000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:117433800-117447800	Weak transcription	Esophagus	oesophagus
32	chr7:117434000-117437000	Weak transcription	Pancreas	Pancrea
33	chr7:117434200-117437200	Weak transcription	Brain Angular Gyrus	brain
34	chr7:117434200-117447000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:117434400-117437000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:117434400-117437200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:117434600-117437000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:117434800-117436000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:117434800-117436600	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:117434800-117437000	Weak transcription	Brain Substantia Nigra	brain
41	chr7:117434800-117445400	Weak transcription	Brain Anterior Caudate	brain
42	chr7:117434800-117447400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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