Variant report

Variant	rs12144998
Chromosome Location	chr1:171701309-171701310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171687308..171689359-chr1:171700947..171702726,2	K562	blood:
2	chr1:171699126..171703650-chr1:171709552..171712339,6	K562	blood:
3	chr1:171700285..171702286-chr1:171705548..171707475,2	K562	blood:
4	chr1:171700759..171702561-chr1:171709552..171711589,2	K562	blood:

Variant related genes	Relation type
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12127345	1.00[AMR][1000 genomes];1.00[EUR][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
4	chr1:171666800-171702400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:171668800-171705400	Weak transcription	Right Ventricle	heart
6	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
7	chr1:171669600-171705400	Weak transcription	Fetal Brain Male	brain
8	chr1:171686600-171710400	Weak transcription	Esophagus	oesophagus
9	chr1:171686600-171710400	Weak transcription	Gastric	stomach
10	chr1:171686800-171704600	Weak transcription	NHEK	skin
11	chr1:171687000-171704600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:171687600-171704600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:171687600-171708000	Weak transcription	K562	blood
14	chr1:171692400-171705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:171692400-171708400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:171692400-171710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:171692400-171710400	Weak transcription	Lung	lung
18	chr1:171692600-171705000	Weak transcription	Thymus	Thymus
19	chr1:171692600-171705400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:171692600-171705600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:171692600-171708400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:171692600-171709800	Weak transcription	Stomach Mucosa	stomach
23	chr1:171692600-171710200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:171692800-171704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:171692800-171705600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:171693200-171705000	Weak transcription	Fetal Intestine Small	intestine
27	chr1:171693200-171705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:171693200-171709800	Weak transcription	Fetal Kidney	kidney
29	chr1:171694400-171705200	Weak transcription	A549	lung
30	chr1:171694800-171704600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:171694800-171704800	Weak transcription	GM12878-XiMat	blood
32	chr1:171694800-171709000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:171695000-171710400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:171695600-171708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:171696000-171710200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:171696200-171710400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:171696400-171704600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:171696400-171709800	Weak transcription	Psoas Muscle	Psoas
39	chr1:171696600-171702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:171697000-171702600	Weak transcription	HSMM	muscle
41	chr1:171697000-171705800	Weak transcription	Fetal Brain Female	brain
42	chr1:171697200-171702600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:171697200-171702800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:171697200-171710000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:171697400-171704600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:171697400-171704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:171697400-171705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:171697400-171705400	Weak transcription	Fetal Lung	lung
49	chr1:171697400-171705800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:171697400-171706000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links