Variant report

Variant	rs2253904
Chromosome Location	chr10:94065119-94065120
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	USF1	chr10:94065067-94065468	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr10:94064955-94065379	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr10:94064822-94065531	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94055420..94057714-chr10:94063386..94066356,2	K562	blood:
2	chr10:94063132..94065209-chr10:94068419..94071356,3	K562	blood:

Variant related genes	Relation type
MARCH5	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10748577	0.91[ASN][1000 genomes]
rs10748578	0.90[ASN][1000 genomes]
rs10748579	0.85[ASN][1000 genomes]
rs10748580	0.84[ASN][1000 genomes]
rs10882042	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11186914	0.95[ASN][1000 genomes]
rs11186915	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2245994	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2254667	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2265195	0.88[ASN][1000 genomes]
rs2488793	0.85[ASN][1000 genomes]
rs2771248	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2771253	0.91[ASN][1000 genomes]
rs2771265	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798254	0.91[ASN][1000 genomes]
rs3824734	0.81[AMR][1000 genomes]
rs4933228	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4933229	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4933720	0.95[ASN][1000 genomes]
rs4999831	0.85[ASN][1000 genomes]
rs7090737	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7094433	0.90[ASN][1000 genomes]
rs7908721	0.81[AMR][1000 genomes]
rs7914436	0.81[ASN][1000 genomes]
rs913649	0.85[ASN][1000 genomes]
rs9943333	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 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	chr10:94052000-94111800	Weak transcription	Gastric	stomach
2	chr10:94052200-94065800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:94052200-94071000	Weak transcription	Fetal Intestine Large	intestine
4	chr10:94052200-94109400	Weak transcription	Esophagus	oesophagus
5	chr10:94052400-94070800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:94052400-94080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:94052400-94101200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:94052400-94101600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:94052400-94108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:94052400-94114600	Weak transcription	Colonic Mucosa	Colon
11	chr10:94052600-94065200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:94052600-94068200	Weak transcription	Small Intestine	intestine
13	chr10:94052600-94070800	Weak transcription	NHDF-Ad	bronchial
14	chr10:94052600-94071600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:94052600-94077200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:94052600-94102000	Weak transcription	NHLF	lung
17	chr10:94052600-94109400	Weak transcription	HSMMtube	muscle
18	chr10:94052800-94072000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:94052800-94072800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:94052800-94087400	Weak transcription	K562	blood
21	chr10:94052800-94088600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:94053000-94070800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:94053200-94071400	Weak transcription	HMEC	breast
24	chr10:94053200-94074600	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:94053200-94086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:94053400-94109400	Weak transcription	Fetal Brain Male	brain
27	chr10:94054400-94077400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr10:94054600-94070800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:94054600-94071000	Weak transcription	NH-A	brain
30	chr10:94054600-94071600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:94054600-94101400	Weak transcription	HSMM	muscle
32	chr10:94054800-94065200	Weak transcription	Psoas Muscle	Psoas
33	chr10:94054800-94068000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:94054800-94070800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:94054800-94072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:94054800-94087200	Weak transcription	NHEK	skin
37	chr10:94055000-94080600	Weak transcription	Hela-S3	cervix
38	chr10:94055800-94067600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:94056800-94080600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:94056800-94087600	Weak transcription	A549	lung
41	chr10:94057200-94068000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:94057200-94073800	Weak transcription	Right Atrium	heart
43	chr10:94057400-94072800	Weak transcription	Lung	lung
44	chr10:94058800-94068000	Weak transcription	Ovary	ovary
45	chr10:94059000-94065600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:94059000-94066000	Weak transcription	Left Ventricle	heart
47	chr10:94059000-94068000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:94059200-94070800	Weak transcription	Fetal Brain Female	brain
49	chr10:94059600-94065200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:94059800-94066600	Weak transcription	Thymus	Thymus

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