Variant report

Variant	rs6869286
Chromosome Location	chr5:74959220-74959221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74959210..74961845-chr5:74965195..74967227,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10942740	1.00[MEX][hapmap]
rs16872710	1.00[MEX][hapmap]
rs16872769	1.00[MEX][hapmap]
rs16872814	1.00[MEX][hapmap]
rs4640771	1.00[MEX][hapmap]
rs5744586	1.00[MEX][hapmap]
rs5744687	1.00[MEX][hapmap]
rs6453138	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863912	1.00[MEX][hapmap]
rs6867195	1.00[MEX][hapmap]
rs6880138	1.00[MEX][hapmap]
rs6884122	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	chr5:74952600-74964200	Weak transcription	Stomach Mucosa	stomach
4	chr5:74952800-74964000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:74952800-74964200	Weak transcription	Right Ventricle	heart
6	chr5:74952800-74964400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:74952800-74981400	Weak transcription	Psoas Muscle	Psoas
8	chr5:74953000-74961000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:74953000-74964200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:74953000-74964400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:74953000-74964400	Weak transcription	Fetal Kidney	kidney
12	chr5:74953000-74964400	Weak transcription	Fetal Stomach	stomach
13	chr5:74953000-74964600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:74956000-74965000	Weak transcription	NHEK	skin
15	chr5:74956600-74964400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:74956800-74962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:74956800-74964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:74957400-74960800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:74957400-74966000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:74957400-74966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:74958000-74964600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:74958200-74959400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:74958400-74964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:74958600-74959400	Weak transcription	Fetal Brain Male	brain
25	chr5:74958600-74960400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:74959000-74961000	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:74959200-74959400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:74959200-74959400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:74959200-74959600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:74959200-74960000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:74959200-74960000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:74959200-74960000	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr5:74959200-74960200	Strong transcription	Fetal Intestine Small	intestine
34	chr5:74959200-74965200	Enhancers	Brain Substantia Nigra	brain

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