Variant report

Variant	rs10049835
Chromosome Location	chr4:74477192-74477193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74475388..74478250-chr4:74479848..74482817,2	K562	blood:
2	chr4:74475388..74478250-chr4:74479848..74483850,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10000698	1.00[AMR][1000 genomes]
rs10011693	1.00[AMR][1000 genomes]
rs10015321	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015884	1.00[AMR][1000 genomes]
rs10032183	1.00[AMR][1000 genomes]
rs10034509	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs1105321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12331864	1.00[AMR][1000 genomes]
rs1528922	0.83[AMR][1000 genomes]
rs16849498	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2367164	1.00[AMR][1000 genomes]
rs28533985	1.00[AMR][1000 genomes]
rs28562313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28570600	1.00[AMR][1000 genomes]
rs28649464	1.00[AMR][1000 genomes]
rs28651748	1.00[AMR][1000 genomes]
rs28755465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3822100	0.81[YRI][hapmap]
rs6831133	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7356389	1.00[AMR][1000 genomes]
rs9291186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9995788	0.95[YRI][hapmap];1.00[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74464200-74477200	Enhancers	Fetal Intestine Small	intestine
2	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
3	chr4:74469800-74477200	Enhancers	HepG2	liver
4	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:74472400-74477800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74472800-74483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:74474200-74477200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:74474400-74477400	Genic enhancers	HMEC	breast
9	chr4:74474400-74477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:74474400-74479800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:74474400-74481400	Genic enhancers	Fetal Thymus	thymus
12	chr4:74474600-74477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:74474800-74477400	Enhancers	A549	lung
14	chr4:74474800-74483200	Weak transcription	Small Intestine	intestine
15	chr4:74475600-74477800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:74475600-74478400	Weak transcription	Colonic Mucosa	Colon
17	chr4:74475600-74482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:74475800-74481200	Weak transcription	Fetal Kidney	kidney
19	chr4:74476200-74484400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:74476400-74477200	Genic enhancers	Stomach Mucosa	stomach
21	chr4:74476400-74478800	Weak transcription	Pancreas	Pancrea
22	chr4:74476400-74484600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:74476600-74477800	Weak transcription	HSMM	muscle
24	chr4:74476600-74478600	Weak transcription	Placenta	Placenta
25	chr4:74476600-74479600	Weak transcription	Gastric	stomach
26	chr4:74476800-74481000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:74476800-74482400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:74477000-74478400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:74477000-74478400	Enhancers	NHEK	skin
30	chr4:74477000-74478600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:74477000-74478600	Weak transcription	Thymus	Thymus

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