Variant report

Variant	rs3748074
Chromosome Location	chr6:144079081-144079082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144078322..144080514-chr6:144163039..144165218,2	K562	blood:
2	chr6:144075659..144077408-chr6:144078604..144081076,2	K562	blood:
3	chr6:144076953..144079572-chr6:144081415..144086815,4	K562	blood:
4	chr6:144074038..144075721-chr6:144077621..144079711,2	K562	blood:
5	chr6:144037482..144039752-chr6:144079011..144080855,2	K562	blood:

Variant related genes	Relation type
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11155325	0.82[ASN][1000 genomes]
rs1935496	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2073215	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2144223	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2295202	0.82[CHB][hapmap]
rs4140473	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6907533	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs6907636	0.84[ASN][1000 genomes]
rs6911389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6912445	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6927537	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6931865	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs722754	0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs7754387	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7770737	0.86[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs9399461	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv5513	chr6:144068006-144102028	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144053800-144079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:144056200-144080200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:144061000-144079800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:144061000-144086600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:144063800-144086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:144064800-144086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:144066600-144081000	Weak transcription	Esophagus	oesophagus
8	chr6:144066800-144080600	Weak transcription	Spleen	Spleen
9	chr6:144067000-144081000	Weak transcription	Brain Angular Gyrus	brain
10	chr6:144067000-144083000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:144067600-144087400	Weak transcription	NH-A	brain
12	chr6:144067800-144086400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:144067800-144095400	Weak transcription	NHLF	lung
14	chr6:144067800-144122000	Weak transcription	Colonic Mucosa	Colon
15	chr6:144068000-144086400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:144068600-144086600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:144069000-144081400	Weak transcription	Right Atrium	heart
18	chr6:144069200-144087200	Weak transcription	Fetal Heart	heart
19	chr6:144069400-144097800	Weak transcription	Gastric	stomach
20	chr6:144069600-144085200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:144069600-144093200	Weak transcription	Stomach Mucosa	stomach
22	chr6:144069800-144086400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:144070200-144122000	Weak transcription	Small Intestine	intestine
24	chr6:144070600-144086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:144070800-144106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:144072600-144086400	Weak transcription	Right Ventricle	heart
27	chr6:144072600-144095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:144072600-144106400	Weak transcription	HMEC	breast
29	chr6:144072800-144086400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:144074200-144087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:144074200-144113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:144074400-144079400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:144074400-144079400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr6:144074400-144080000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:144074600-144079200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:144074600-144083000	Strong transcription	Fetal Intestine Large	intestine
37	chr6:144075000-144085800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:144075200-144079400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:144075400-144079200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:144075400-144079200	Strong transcription	Fetal Intestine Small	intestine
41	chr6:144075600-144079400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:144075800-144080400	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:144075800-144081000	Weak transcription	Psoas Muscle	Psoas
44	chr6:144075800-144081000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:144076200-144080400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:144076400-144079200	Strong transcription	Fetal Stomach	stomach
47	chr6:144076400-144079400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:144076400-144079400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:144076400-144081000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:144076800-144086400	Weak transcription	Muscle Satellite Cultured Cells	--

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