Variant report

Variant	rs7714554
Chromosome Location	chr5:74951747-74951748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74950997..74952941-chr5:74954987..74957253,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018119	0.87[ASN][1000 genomes]
rs10515215	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872589	0.87[ASN][1000 genomes]
rs16872635	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16872639	0.94[ASN][1000 genomes]
rs16872665	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872674	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16872720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872723	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16872724	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16872726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872766	0.85[YRI][hapmap]
rs17672150	0.98[ASN][1000 genomes]
rs17672204	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909720	0.87[ASN][1000 genomes]
rs1988728	0.87[ASN][1000 genomes]
rs2287708	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2287709	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2303648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs55705647	0.87[ASN][1000 genomes]
rs5744578	0.87[ASN][1000 genomes]
rs5744587	0.87[ASN][1000 genomes]
rs5744591	0.87[ASN][1000 genomes]
rs5744594	0.87[ASN][1000 genomes]
rs5744612	0.87[ASN][1000 genomes]
rs5744661	0.87[ASN][1000 genomes]
rs5744681	0.87[ASN][1000 genomes]
rs58789089	0.87[ASN][1000 genomes]
rs59115766	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60005967	1.00[EUR][1000 genomes]
rs60389922	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60854109	0.87[ASN][1000 genomes]
rs61164763	0.87[ASN][1000 genomes]
rs73764928	0.87[ASN][1000 genomes]
rs73764930	0.87[ASN][1000 genomes]
rs73764931	0.94[ASN][1000 genomes]
rs73764932	0.94[ASN][1000 genomes]
rs767677	0.87[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74944800-74952200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:74946600-74952200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:74946600-74952400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:74947200-74952200	Enhancers	Fetal Heart	heart
7	chr5:74947600-74952000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:74948000-74951800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:74948000-74959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:74948200-74952000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:74948400-74952400	Weak transcription	Fetal Brain Male	brain
12	chr5:74949200-74952000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:74950200-74952200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:74950400-74952000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:74950800-74952200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:74950800-74952200	Enhancers	Fetal Stomach	stomach
17	chr5:74951000-74952200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:74951000-74952200	Weak transcription	Right Ventricle	heart
19	chr5:74951000-74952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:74951200-74951800	Weak transcription	NHEK	skin
21	chr5:74951200-74952400	Weak transcription	Fetal Intestine Small	intestine
22	chr5:74951200-74952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:74951200-74952600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:74951200-74953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:74951400-74952200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:74951600-74951800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:74951600-74951800	Enhancers	Brain Hippocampus Middle	brain
28	chr5:74951600-74952000	Enhancers	Brain Anterior Caudate	brain
29	chr5:74951600-74952000	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:74951600-74952000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr5:74951600-74952000	Enhancers	Brain Substantia Nigra	brain
32	chr5:74951600-74952000	Enhancers	Fetal Kidney	kidney
33	chr5:74951600-74952000	Enhancers	Right Atrium	heart
34	chr5:74951600-74952800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:74951600-74952800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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