Variant report

Variant	rs1984823
Chromosome Location	chr7:129332946-129332947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129322267..129326346-chr7:129330373..129333494,3	K562	blood:
2	chr7:129329549..129331760-chr7:129332227..129334813,2	MCF-7	breast:
3	chr7:129331995..129334555-chr7:129422124..129425083,2	K562	blood:
4	chr7:129331329..129333031-chr7:129334904..129337544,2	MCF-7	breast:
5	chr7:129332279..129335548-chr7:129335569..129339613,4	K562	blood:
6	chr7:129330503..129333006-chr7:129437406..129439224,2	K562	blood:

Variant related genes	Relation type
ENSG00000242078	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10954251	0.81[CEU][hapmap]
rs11769146	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs11773023	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs13236221	0.81[CEU][hapmap]
rs13239011	0.81[CEU][hapmap]
rs17556221	0.81[CEU][hapmap];0.93[GIH][hapmap]
rs17556430	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs1962038	0.81[CEU][hapmap]
rs2293629	0.81[CEU][hapmap];0.93[GIH][hapmap]
rs3736626	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs4440554	0.81[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4728175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731617	0.92[JPT][hapmap]
rs6467260	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6953987	0.85[GIH][hapmap]
rs9641855	0.92[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1984823	UBE2H	cis	cerebellum	SCAN
rs1984823	TNPO3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129297800-129349800	Weak transcription	Small Intestine	intestine
2	chr7:129305000-129338200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:129307200-129352000	Weak transcription	NHLF	lung
4	chr7:129311400-129352200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:129314800-129351200	Weak transcription	Pancreas	Pancrea
6	chr7:129315200-129341800	Weak transcription	NH-A	brain
7	chr7:129315400-129357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:129315600-129373600	Weak transcription	Psoas Muscle	Psoas
9	chr7:129316400-129350200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:129316400-129357200	Weak transcription	Fetal Brain Male	brain
11	chr7:129317600-129338400	Weak transcription	K562	blood
12	chr7:129317800-129338400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:129317800-129338400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:129319000-129347000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:129319000-129380000	Weak transcription	NHDF-Ad	bronchial
16	chr7:129319200-129351200	Weak transcription	Hela-S3	cervix
17	chr7:129320600-129350200	Weak transcription	Fetal Kidney	kidney
18	chr7:129325000-129350000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:129328000-129334200	Strong transcription	Fetal Thymus	thymus
20	chr7:129328000-129334600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:129328000-129369000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:129328200-129335600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:129328400-129333400	Strong transcription	Thymus	Thymus
24	chr7:129328600-129334000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:129328800-129335400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:129329000-129333000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:129329000-129333800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:129329000-129335000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:129329200-129333200	Strong transcription	Dnd41	blood
30	chr7:129329200-129334800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:129329200-129334800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:129329200-129334800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr7:129329200-129334800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:129329200-129335000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:129329200-129335000	Strong transcription	Primary T cells from cord blood	blood
36	chr7:129329200-129335200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:129329200-129335600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:129329400-129333000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr7:129329400-129334200	Strong transcription	Primary B cells from cord blood	blood
40	chr7:129329400-129334200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:129329400-129334600	Strong transcription	Fetal Intestine Large	intestine
42	chr7:129329400-129334800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:129329400-129334800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:129329600-129333000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:129329600-129333000	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:129329600-129333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:129329600-129334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:129329600-129334600	Strong transcription	Fetal Stomach	stomach
49	chr7:129329600-129335400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:129329800-129334600	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links