Variant report

Variant	rs7514094
Chromosome Location	chr1:225695170-225695171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1075364	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs10799319	0.81[LWK][hapmap]
rs11584996	0.81[ASN][1000 genomes]
rs2840959	0.82[EUR][1000 genomes]
rs2840966	0.81[EUR][1000 genomes]
rs4653643	0.81[LWK][hapmap]
rs508817	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6701032	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2756886	chr1:225665694-225703485	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv2759003	chr1:225665694-225703485	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7514094	HLX	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
3	chr1:225669800-225696800	Weak transcription	Pancreas	Pancrea
4	chr1:225672200-225696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:225672200-225696800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:225674400-225696800	Weak transcription	Aorta	Aorta
7	chr1:225676200-225696400	Weak transcription	Gastric	stomach
8	chr1:225677200-225696000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:225677200-225696400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:225677200-225696400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:225677200-225696400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:225677200-225696400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:225677200-225696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:225677200-225696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:225677200-225696600	Weak transcription	Psoas Muscle	Psoas
16	chr1:225677200-225703600	Weak transcription	Fetal Brain Female	brain
17	chr1:225679600-225696000	Weak transcription	Hela-S3	cervix
18	chr1:225680200-225695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:225680200-225696200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:225680800-225696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:225681200-225696200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:225681800-225699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:225683000-225696000	Weak transcription	HMEC	breast
24	chr1:225683000-225696800	Weak transcription	Lung	lung
25	chr1:225683400-225696600	Weak transcription	Right Ventricle	heart
26	chr1:225684200-225696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:225686600-225695800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:225686800-225695800	Weak transcription	HUVEC	blood vessel
29	chr1:225686800-225695800	Weak transcription	NHLF	lung
30	chr1:225686800-225696200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:225686800-225696400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:225686800-225696400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:225686800-225696400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:225686800-225699800	Weak transcription	Adipose Nuclei	Adipose
35	chr1:225687000-225695200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:225687000-225696600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:225687000-225705000	Weak transcription	Spleen	Spleen
38	chr1:225687200-225695800	Strong transcription	Osteobl	bone
39	chr1:225687400-225704400	Weak transcription	Fetal Stomach	stomach
40	chr1:225688000-225696600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:225688600-225704600	Weak transcription	Placenta	Placenta
42	chr1:225688800-225696400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:225688800-225696400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:225688800-225696400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:225688800-225696600	Weak transcription	Fetal Intestine Small	intestine
46	chr1:225688800-225711400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:225689200-225696600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:225689200-225696600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr1:225689200-225696600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:225689200-225696600	Weak transcription	Ovary	ovary

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