Variant report

Variant	rs34847853
Chromosome Location	chr10:97322344-97322345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr10:97322200-97322430	HepG2	liver:	n/a	n/a
2	CTCF	chr10:97322240-97322390	HepG2	liver:	n/a	n/a
3	MXI1	chr10:97322256-97322423	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97321491..97323159-chr10:97323965..97326308,2	K562	blood:

Variant related genes	Relation type
SORBS1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11592789	0.81[AMR][1000 genomes]
rs11592809	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11593038	0.88[AMR][1000 genomes]
rs11593693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11594687	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11595248	0.88[AMR][1000 genomes]
rs11598540	0.88[AMR][1000 genomes]
rs12761112	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12765494	0.81[EUR][1000 genomes]
rs12767650	0.86[AMR][1000 genomes]
rs12770849	0.86[AMR][1000 genomes]
rs12775780	0.88[AMR][1000 genomes]
rs12779833	0.88[AMR][1000 genomes]
rs12781327	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1409710	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2275272	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2296690	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34332904	0.81[AMR][1000 genomes]
rs34460407	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34533159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34832675	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35712039	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35822210	0.85[EUR][1000 genomes]
rs3793751	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57670810	0.81[AMR][1000 genomes]
rs67783179	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67857430	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71482367	0.82[AMR][1000 genomes]
rs71482376	0.86[AMR][1000 genomes]
rs71482377	0.86[AMR][1000 genomes]
rs71482378	0.86[AMR][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	nsv552022	chr10:97308114-97328227	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97321400-97322400	Enhancers	Small Intestine	intestine
2	chr10:97321400-97322600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr10:97321600-97322400	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr10:97321600-97322400	Enhancers	Fetal Heart	heart
5	chr10:97321600-97322400	Enhancers	Fetal Muscle Leg	muscle
6	chr10:97321600-97322400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr10:97321600-97322400	Flanking Active TSS	HepG2	liver
8	chr10:97321600-97324200	Weak transcription	Left Ventricle	heart
9	chr10:97321600-97324600	Weak transcription	Fetal Lung	lung
10	chr10:97321600-97325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:97321600-97325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:97321600-97327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:97321600-97327600	Weak transcription	Right Atrium	heart
14	chr10:97321600-97328000	Weak transcription	Lung	lung
15	chr10:97321600-97329200	Enhancers	Placenta	Placenta
16	chr10:97321600-97332200	Weak transcription	Right Ventricle	heart
17	chr10:97321800-97322400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:97321800-97322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr10:97321800-97322400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:97321800-97322400	Enhancers	Colonic Mucosa	Colon
21	chr10:97321800-97322400	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:97321800-97322400	Enhancers	K562	blood
23	chr10:97321800-97322600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:97321800-97323000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr10:97321800-97324600	Weak transcription	Fetal Stomach	stomach
26	chr10:97321800-97325000	Weak transcription	Hela-S3	cervix
27	chr10:97321800-97325400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:97321800-97325600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:97321800-97325800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:97321800-97327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:97321800-97331800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr10:97321800-97332200	Weak transcription	Brain Anterior Caudate	brain
33	chr10:97322000-97322400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:97322000-97322400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:97322000-97322800	Enhancers	Fetal Brain Female	brain
36	chr10:97322000-97324600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:97322000-97327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:97322200-97322400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:97322200-97322400	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr10:97322200-97323400	Enhancers	Fetal Intestine Large	intestine
41	chr10:97322200-97324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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