Variant report

Variant	rs2287709
Chromosome Location	chr5:74957819-74957820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74955921..74958847-chr5:74961478..74964262,3	K562	blood:
2	chr5:74956949..74958847-chr5:74961293..74964249,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10515215	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16872665	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs16872670	0.81[JPT][hapmap]
rs16872674	0.81[EUR][1000 genomes]
rs16872720	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs16872723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16872724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872726	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2287708	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303648	1.00[JPT][hapmap]
rs5744658	0.90[ASN][1000 genomes]
rs5744722	0.90[ASN][1000 genomes]
rs59115766	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60005967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60389922	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61678717	0.80[ASN][1000 genomes]
rs7714554	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs963004	0.90[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:31 , 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	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
3	chr5:74948000-74959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:74952600-74964200	Weak transcription	Stomach Mucosa	stomach
5	chr5:74952800-74958000	Weak transcription	Fetal Brain Male	brain
6	chr5:74952800-74959200	Weak transcription	Fetal Intestine Small	intestine
7	chr5:74952800-74964000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:74952800-74964200	Weak transcription	Right Ventricle	heart
9	chr5:74952800-74964400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
11	chr5:74953000-74958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:74953000-74959000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:74953000-74959200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:74953000-74961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:74953000-74964200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:74953000-74964400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:74953000-74964400	Weak transcription	Fetal Kidney	kidney
18	chr5:74953000-74964400	Weak transcription	Fetal Stomach	stomach
19	chr5:74953000-74964600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:74954400-74958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:74956000-74965000	Weak transcription	NHEK	skin
22	chr5:74956600-74964400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:74956800-74962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:74956800-74964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:74957200-74959200	Enhancers	Brain Germinal Matrix	brain
26	chr5:74957400-74958000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:74957400-74958200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:74957400-74960800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:74957800-74958800	Enhancers	HUES64 Cell Line	embryonic stem cell

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