Variant report

Variant	rs325004
Chromosome Location	chr6:44270365-44270366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44270080-44270426	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44221494..44225979-chr6:44269650..44274771,6	K562	blood:
2	chr6:44213299..44216188-chr6:44269950..44273084,4	K562	blood:
3	chr6:44244057..44246531-chr6:44270330..44272647,2	MCF-7	breast:

Variant related genes	Relation type
TCTE1	TF binding region
AARS2	TF binding region
ENSG00000265700	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12215017	0.93[ASN][1000 genomes]
rs167772	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs324137	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325000	0.99[ASN][1000 genomes]
rs325001	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325002	0.99[ASN][1000 genomes]
rs3818685	0.85[EUR][1000 genomes]
rs498512	0.98[ASN][1000 genomes]
rs651297	0.96[ASN][1000 genomes]
rs7772949	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
7	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
8	esv1807818	chr6:44266574-44275011	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44265600-44279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:44266000-44271600	Weak transcription	NHDF-Ad	bronchial
3	chr6:44266000-44272400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:44266000-44276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:44266000-44277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:44266000-44280000	Weak transcription	Small Intestine	intestine
7	chr6:44266200-44270800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:44266200-44271200	Weak transcription	Fetal Brain Male	brain
9	chr6:44266200-44276400	Weak transcription	Fetal Heart	heart
10	chr6:44266200-44276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:44266200-44279600	Weak transcription	Right Atrium	heart
12	chr6:44266800-44272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:44266800-44273600	Strong transcription	Fetal Stomach	stomach
14	chr6:44266800-44276600	Strong transcription	Fetal Intestine Small	intestine
15	chr6:44266800-44279200	Strong transcription	Brain Cingulate Gyrus	brain
16	chr6:44266800-44279800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:44267000-44272800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:44267000-44275400	Weak transcription	Fetal Kidney	kidney
19	chr6:44267000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:44267000-44279600	Strong transcription	Fetal Muscle Leg	muscle
21	chr6:44267000-44279800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:44267000-44279800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr6:44267200-44279400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:44267200-44279600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:44267200-44279600	Strong transcription	Fetal Thymus	thymus
26	chr6:44267200-44279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:44267200-44279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:44267400-44272800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:44267400-44275400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:44267400-44275600	Strong transcription	NHLF	lung
31	chr6:44267400-44276400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:44267400-44276600	Strong transcription	NHEK	skin
33	chr6:44267400-44276800	Strong transcription	Fetal Intestine Large	intestine
34	chr6:44267400-44279200	Strong transcription	Liver	Liver
35	chr6:44267400-44279400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:44267400-44279600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:44267400-44279600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:44267400-44280000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:44267400-44280000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr6:44267600-44279200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr6:44267600-44279400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:44267600-44279800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:44267800-44274400	Strong transcription	Brain Substantia Nigra	brain
44	chr6:44267800-44276600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:44267800-44277000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:44267800-44279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:44267800-44279800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr6:44268000-44270600	ZNF genes & repeats	Lung	lung
49	chr6:44268000-44271200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:44268000-44271800	Strong transcription	Primary hematopoietic stem cells	blood

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