Variant report

Variant	rs12600208
Chromosome Location	chr16:74638512-74638513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74637522..74639307-chr16:74639433..74640969,2	K562	blood:
2	chr16:74619421..74621291-chr16:74638015..74640531,2	MCF-7	breast:
3	chr16:74624724..74627496-chr16:74637454..74640972,3	MCF-7	breast:
4	chr16:74626700..74628548-chr16:74638340..74640608,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11149758	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11640231	0.84[AMR][1000 genomes]
rs28417898	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4334322	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4462622	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4887778	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887781	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4888272	0.81[EUR][1000 genomes]
rs56283458	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62051923	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62051924	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047350	0.87[EUR][1000 genomes]
rs8061670	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
2	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:74624200-74638600	Weak transcription	Placenta	Placenta
4	chr16:74624200-74639200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:74628000-74638800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:74630800-74638600	Weak transcription	Right Ventricle	heart
7	chr16:74631200-74639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:74632200-74638600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:74632200-74638600	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:74632200-74638800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr16:74632600-74639200	Weak transcription	Fetal Intestine Small	intestine
12	chr16:74634600-74640200	Weak transcription	Spleen	Spleen
13	chr16:74635000-74639200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:74635400-74638600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:74635800-74638600	Weak transcription	Thymus	Thymus
16	chr16:74635800-74639000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:74635800-74639200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:74635800-74639200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:74635800-74639200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:74635800-74639200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr16:74635800-74639200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:74636000-74639200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:74636000-74639200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:74636000-74639200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:74636000-74639200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:74636200-74639200	Weak transcription	Stomach Mucosa	stomach
27	chr16:74636200-74640000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr16:74636400-74639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:74636800-74638800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:74636800-74639000	Enhancers	Left Ventricle	heart
31	chr16:74636800-74639000	Enhancers	Psoas Muscle	Psoas
32	chr16:74636800-74639200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:74636800-74639200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr16:74636800-74639200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:74636800-74639400	Enhancers	Adipose Nuclei	Adipose
36	chr16:74637000-74639000	Weak transcription	Right Atrium	heart
37	chr16:74637400-74638600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:74637400-74638600	Enhancers	Osteobl	bone
39	chr16:74637400-74639200	Enhancers	Liver	Liver
40	chr16:74637400-74639200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr16:74637400-74639200	Enhancers	Dnd41	blood
42	chr16:74637400-74639200	Enhancers	Hela-S3	cervix
43	chr16:74637400-74639200	Enhancers	HUVEC	blood vessel
44	chr16:74637400-74639800	Enhancers	Small Intestine	intestine
45	chr16:74637400-74640000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr16:74637600-74638600	Enhancers	Brain Germinal Matrix	brain
47	chr16:74637600-74638600	Flanking Active TSS	K562	blood
48	chr16:74637600-74638800	Enhancers	Fetal Heart	heart
49	chr16:74637600-74639200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:74637600-74639200	Enhancers	Duodenum Smooth Muscle	Duodenum

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