Variant report

Variant	rs7196038
Chromosome Location	chr16:75623640-75623641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75623127..75625828-chr16:75626144..75628111,2	MCF-7	breast:
2	chr16:75588365..75589929-chr16:75623424..75625187,2	K562	blood:
3	chr16:75621135..75623651-chr16:75625783..75627989,2	K562	blood:
4	chr16:75618240..75621065-chr16:75621987..75626316,7	K562	blood:
5	chr16:75623346..75625047-chr16:75636615..75639522,2	K562	blood:
6	chr16:75607893..75609985-chr16:75623228..75625005,2	K562	blood:

Variant related genes	Relation type
ENSG00000034713	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs12445123	1.00[ASN][1000 genomes]
rs12919273	0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34084576	1.00[ASN][1000 genomes]
rs34838148	0.83[ASN][1000 genomes]
rs34993363	0.86[ASN][1000 genomes]
rs3784931	1.00[ASN][1000 genomes]
rs7189005	1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs7189069	1.00[ASN][1000 genomes]
rs7201040	0.86[ASN][1000 genomes]
rs9937608	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7196038	ADAT1	cis	cerebellum	SCAN
rs7196038	ADAT1	cis	parietal	SCAN
rs7196038	MLKL	cis	parietal	SCAN
rs7196038	VAC14	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75601200-75624400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75607600-75630800	Weak transcription	Fetal Brain Male	brain
3	chr16:75609000-75627800	Weak transcription	NHEK	skin
4	chr16:75610400-75634000	Weak transcription	Hela-S3	cervix
5	chr16:75610600-75633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:75610600-75635200	Weak transcription	Fetal Kidney	kidney
7	chr16:75611000-75624800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:75611400-75634000	Weak transcription	Colonic Mucosa	Colon
9	chr16:75611800-75628800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:75612000-75627400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:75612000-75627400	Weak transcription	Psoas Muscle	Psoas
12	chr16:75612000-75631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:75612000-75635600	Weak transcription	Small Intestine	intestine
14	chr16:75612400-75624600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:75612400-75631000	Weak transcription	Gastric	stomach
16	chr16:75612400-75631200	Weak transcription	Esophagus	oesophagus
17	chr16:75613200-75624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:75613200-75624400	Weak transcription	K562	blood
19	chr16:75613200-75624600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:75613200-75624800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:75613200-75624800	Weak transcription	NHLF	lung
22	chr16:75613200-75627200	Weak transcription	HepG2	liver
23	chr16:75613200-75627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:75613200-75633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:75613400-75624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:75613400-75624400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr16:75613400-75624400	Weak transcription	HSMM	muscle
28	chr16:75613400-75624600	Weak transcription	NH-A	brain
29	chr16:75613400-75624800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:75613400-75624800	Weak transcription	NHDF-Ad	bronchial
31	chr16:75613400-75630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:75613400-75635200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:75613600-75627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:75613600-75630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:75613600-75631000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:75613600-75633000	Weak transcription	Ovary	ovary
37	chr16:75613800-75627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:75613800-75627800	Weak transcription	A549	lung
39	chr16:75613800-75627800	Weak transcription	HUVEC	blood vessel
40	chr16:75613800-75630800	Weak transcription	HMEC	breast
41	chr16:75613800-75632800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:75614000-75624200	Weak transcription	Fetal Lung	lung
43	chr16:75614000-75627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:75614000-75629800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:75614200-75624200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:75614200-75624200	Weak transcription	Osteobl	bone
47	chr16:75614200-75625000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr16:75614200-75627200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:75614200-75627800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:75614400-75624000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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