Variant report

Variant	rs4251514
Chromosome Location	chr12:44174301-44174302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44171875..44174697-chr12:44187655..44190054,2	MCF-7	breast:
2	chr12:44172452..44174764-chr12:44179604..44182124,2	MCF-7	breast:
3	chr12:44158365..44162110-chr12:44171321..44174367,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13377809	1.00[CHD][hapmap]
rs28477166	0.92[AFR][1000 genomes]
rs4251428	1.00[AFR][1000 genomes]
rs4251445	0.90[AFR][1000 genomes]
rs4251449	1.00[ASW][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.96[AFR][1000 genomes]
rs4251479	0.90[AFR][1000 genomes]
rs4251492	0.90[AFR][1000 genomes]
rs4251504	0.90[AFR][1000 genomes]
rs4251530	0.90[AFR][1000 genomes]
rs4251544	0.96[AFR][1000 genomes]
rs4251547	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4251551	1.00[ASW][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.91[MKK][hapmap];0.90[AFR][1000 genomes]
rs4251563	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4251514	PNLDC1	trans	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44154200-44189600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:44154200-44189600	Weak transcription	A549	lung
3	chr12:44154200-44194400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:44154200-44199200	Weak transcription	Gastric	stomach
5	chr12:44154400-44178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:44154400-44181200	Weak transcription	Aorta	Aorta
7	chr12:44154400-44189400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:44154400-44189400	Weak transcription	Fetal Kidney	kidney
9	chr12:44154600-44174400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:44154600-44174800	Weak transcription	Small Intestine	intestine
11	chr12:44154600-44178000	Weak transcription	Fetal Stomach	stomach
12	chr12:44154600-44178000	Weak transcription	Spleen	Spleen
13	chr12:44154600-44189400	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:44154600-44199000	Weak transcription	Stomach Mucosa	stomach
15	chr12:44156600-44189400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:44158200-44182800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:44159000-44174800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:44159000-44177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:44159000-44189000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:44159200-44188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:44159400-44187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:44160600-44174600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:44160600-44182400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:44160600-44183600	Weak transcription	Fetal Heart	heart
25	chr12:44160800-44174600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:44160800-44174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:44160800-44174800	Weak transcription	NHEK	skin
28	chr12:44161200-44182400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr12:44161600-44183400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:44161600-44183400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:44161800-44183800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:44162000-44183200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:44162000-44183200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:44162200-44180800	Strong transcription	HSMM	muscle
35	chr12:44162200-44181600	Strong transcription	Liver	Liver
36	chr12:44162200-44182200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:44162200-44182200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:44162200-44182600	Strong transcription	Fetal Thymus	thymus
39	chr12:44162200-44182800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:44162200-44182800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:44163000-44182200	Strong transcription	Dnd41	blood
42	chr12:44165200-44180600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:44165400-44174400	Weak transcription	Psoas Muscle	Psoas
44	chr12:44165400-44178000	Weak transcription	NHLF	lung
45	chr12:44165400-44179800	Strong transcription	Osteobl	bone
46	chr12:44166200-44174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:44166600-44197200	Weak transcription	Fetal Brain Male	brain
48	chr12:44167600-44181600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:44167600-44182600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:44167600-44189600	Weak transcription	Hela-S3	cervix

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