Variant report

Variant	rs4026514
Chromosome Location	chr1:197504370-197504371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
2	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:
3	chr1:197502555..197505067-chr1:197869971..197872889,2	K562	blood:

Variant related genes	Relation type
ENSG00000203724	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10494756	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10754228	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10801609	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10801620	0.81[ASN][1000 genomes]
rs10922231	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10922236	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs10922244	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922252	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10922259	0.81[ASN][1000 genomes]
rs10922260	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10922266	0.81[ASN][1000 genomes]
rs1135810	0.85[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs12042609	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs1337166	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1345529	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs1923759	0.81[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs1998711	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2111930	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs2111934	0.81[ASN][1000 genomes]
rs2287537	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4026508	0.84[ASN][1000 genomes]
rs4026513	0.97[ASN][1000 genomes]
rs4147323	0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs4274099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4282851	0.81[ASN][1000 genomes]
rs4418639	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs4604725	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs4611052	0.81[ASN][1000 genomes]
rs6428416	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6667685	0.81[ASN][1000 genomes]
rs6691216	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs7516153	0.84[ASN][1000 genomes]
rs7523627	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7534863	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7548454	0.81[ASN][1000 genomes]
rs927510	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9658810	0.81[ASN][1000 genomes]
rs9787082	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv4010	chr1:197471463-197511397	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4026514	DENND1B	cis	parietal	SCAN
rs4026514	LHX2	trans	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481000-197507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:197481200-197507200	Weak transcription	Dnd41	blood
8	chr1:197481200-197508000	Weak transcription	Left Ventricle	heart
9	chr1:197481200-197513400	Weak transcription	Adipose Nuclei	Adipose
10	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:197482000-197508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:197482000-197508000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:197482200-197507600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:197482200-197507800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
16	chr1:197491600-197520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:197494600-197510200	Weak transcription	Thymus	Thymus
18	chr1:197495200-197510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:197500600-197529400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:197502200-197508000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:197503200-197510000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:197503200-197524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:197503200-197526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:197503400-197504600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:197503400-197505000	Strong transcription	Primary T cells from cord blood	blood
30	chr1:197503400-197510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:197503600-197504400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:197503600-197505200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:197503600-197514400	Weak transcription	Right Ventricle	heart
34	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:197503800-197507600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:197504000-197504400	Enhancers	Osteobl	bone
37	chr1:197504000-197510400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:197504200-197505000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:197504200-197505400	Enhancers	Ovary	ovary
40	chr1:197504200-197529000	Weak transcription	Fetal Intestine Small	intestine

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