Variant report

Variant	rs12091200
Chromosome Location	chr1:97198147-97198148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:97192682..97195496-chr1:97195725..97198522,3	K562	blood:
2	chr1:97197101..97199084-chr1:97207944..97210511,3	K562	blood:
3	chr1:97197858..97199535-chr1:97199584..97201298,2	K562	blood:
4	chr1:97186109..97190198-chr1:97195662..97200448,7	K562	blood:
5	chr1:97191200..97196400-chr1:97196525..97203029,7	K562	blood:
6	chr1:97196400..97201176-chr1:97201528..97207021,6	K562	blood:

Variant related genes	Relation type
ENSG00000117569	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11165722	1.00[AMR][1000 genomes]
rs12082415	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	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3414899	chr1:97187980-97211076	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97188400-97198600	Weak transcription	Gastric	stomach
2	chr1:97188400-97202200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:97188400-97206800	Weak transcription	Lung	lung
4	chr1:97188600-97198600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:97188600-97200400	Weak transcription	Esophagus	oesophagus
6	chr1:97188600-97200800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:97188600-97205800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:97188600-97217200	Weak transcription	Placenta	Placenta
9	chr1:97188600-97238000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:97188800-97219800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:97189000-97203200	Weak transcription	Stomach Mucosa	stomach
12	chr1:97189000-97218400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:97189200-97198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:97189200-97198200	Weak transcription	Thymus	Thymus
15	chr1:97189200-97218200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:97189200-97218400	Weak transcription	Colonic Mucosa	Colon
17	chr1:97189200-97218600	Weak transcription	HSMMtube	muscle
18	chr1:97189200-97232600	Weak transcription	Right Atrium	heart
19	chr1:97189400-97198600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:97189400-97198600	Weak transcription	HMEC	breast
21	chr1:97189400-97198600	Weak transcription	NHEK	skin
22	chr1:97189400-97198800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:97189400-97199000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:97189400-97203400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:97189400-97217800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:97189800-97204400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:97189800-97212000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:97189800-97217400	Weak transcription	Fetal Kidney	kidney
29	chr1:97189800-97217600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:97190200-97203000	Weak transcription	Small Intestine	intestine
31	chr1:97190200-97218400	Weak transcription	Pancreas	Pancrea
32	chr1:97190600-97201200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:97191200-97200600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:97192000-97198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:97192400-97198600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:97192400-97198800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:97192400-97200600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:97192600-97202400	Strong transcription	HSMM	muscle
39	chr1:97192800-97205000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:97193000-97198800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:97193200-97198400	Genic enhancers	Dnd41	blood
42	chr1:97193600-97201000	Weak transcription	NH-A	brain
43	chr1:97193800-97218200	Weak transcription	Fetal Brain Male	brain
44	chr1:97194000-97198200	Weak transcription	K562	blood
45	chr1:97194000-97198400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:97194000-97206800	Weak transcription	Fetal Heart	heart
47	chr1:97194000-97208600	Weak transcription	Left Ventricle	heart
48	chr1:97194000-97218200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:97194200-97198600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:97194400-97198200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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