Variant report

Variant	rs253415
Chromosome Location	chr5:74957121-74957122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74950997..74952941-chr5:74954987..74957253,2	K562	blood:
2	chr5:74955921..74958847-chr5:74961478..74964262,3	K562	blood:
3	chr5:74956949..74958847-chr5:74961293..74964249,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs253392	0.82[EUR][1000 genomes]
rs253393	0.82[EUR][1000 genomes]
rs253413	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34340	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34344	0.88[ASN][1000 genomes]
rs34345	0.88[ASN][1000 genomes]
rs34350	0.91[ASN][1000 genomes]
rs34355	0.83[EUR][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:34 , 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	chr5:74952400-74957800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:74952600-74964200	Weak transcription	Stomach Mucosa	stomach
6	chr5:74952800-74957200	Weak transcription	Brain Germinal Matrix	brain
7	chr5:74952800-74957400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:74952800-74957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:74952800-74958000	Weak transcription	Fetal Brain Male	brain
10	chr5:74952800-74959200	Weak transcription	Fetal Intestine Small	intestine
11	chr5:74952800-74964000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:74952800-74964200	Weak transcription	Right Ventricle	heart
13	chr5:74952800-74964400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
15	chr5:74953000-74957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:74953000-74958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:74953000-74959000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:74953000-74959200	Weak transcription	Brain Substantia Nigra	brain
19	chr5:74953000-74961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:74953000-74964200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:74953000-74964400	Weak transcription	Adipose Nuclei	Adipose
22	chr5:74953000-74964400	Weak transcription	Fetal Kidney	kidney
23	chr5:74953000-74964400	Weak transcription	Fetal Stomach	stomach
24	chr5:74953000-74964600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:74954400-74958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:74955000-74957200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:74956000-74965000	Weak transcription	NHEK	skin
28	chr5:74956200-74957400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:74956600-74957400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:74956600-74964400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:74956800-74957200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr5:74956800-74957400	Enhancers	GM12878-XiMat	blood
33	chr5:74956800-74962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:74956800-74964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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