Variant report

Variant	rs2391018
Chromosome Location	chr1:92034142-92034143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92029227..92031901-chr1:92033663..92035245,2	K562	blood:
2	chr1:92032150..92035009-chr1:92057004..92058945,2	K562	blood:
3	chr1:91965732..91968185-chr1:92033683..92036118,4	K562	blood:

Variant related genes	Relation type
ENSG00000097046	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10747457	0.97[EUR][1000 genomes]
rs10782964	0.98[EUR][1000 genomes]
rs6689719	0.89[CEU][hapmap]
rs7514544	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7517168	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs906634	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs925191	0.98[EUR][1000 genomes]
rs925192	0.99[EUR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr1:92019200-92035000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:92021400-92035000	Weak transcription	Right Ventricle	heart
3	chr1:92023200-92034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:92023200-92035200	Weak transcription	Spleen	Spleen
5	chr1:92027600-92034800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:92030600-92034800	Weak transcription	K562	blood
7	chr1:92030800-92034800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:92030800-92034800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:92031000-92034600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:92031000-92034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:92031000-92035000	Weak transcription	Left Ventricle	heart
12	chr1:92031000-92035200	Weak transcription	Lung	lung
13	chr1:92031000-92035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:92031000-92037400	Weak transcription	Colonic Mucosa	Colon
15	chr1:92031200-92034600	Weak transcription	NHEK	skin
16	chr1:92031200-92034800	Weak transcription	Adipose Nuclei	Adipose
17	chr1:92031200-92035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:92031200-92035000	Weak transcription	Fetal Lung	lung
19	chr1:92031200-92035000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:92031200-92035400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:92031200-92035400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:92031200-92035400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:92031200-92037400	Weak transcription	Fetal Thymus	thymus
24	chr1:92031400-92034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:92031400-92034600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:92031400-92034600	Weak transcription	NHDF-Ad	bronchial
27	chr1:92031400-92034600	Weak transcription	NHLF	lung
28	chr1:92031400-92034800	Weak transcription	Fetal Stomach	stomach
29	chr1:92031400-92035000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:92031400-92035200	Weak transcription	Esophagus	oesophagus
31	chr1:92031400-92035200	Weak transcription	Placenta	Placenta
32	chr1:92031400-92035400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:92032000-92035400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:92032200-92040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:92033000-92035000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:92033400-92034200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:92033400-92034800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:92033400-92036400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:92033400-92038200	Enhancers	Fetal Heart	heart
40	chr1:92033600-92034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:92033800-92034600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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