Variant report

Variant	rs10082342
Chromosome Location	chr1:173721559-173721560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173720884..173724693-chr1:173791444..173794240,3	K562	blood:
2	chr1:173718954..173722251-chr1:173724534..173727033,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12065033	1.00[CHD][hapmap]
rs16846495	1.00[CHD][hapmap]
rs2180327	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 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	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
5	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
7	chr1:173694600-173724800	Weak transcription	HMEC	breast
8	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
12	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:173696600-173723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
17	chr1:173703400-173725000	Weak transcription	Colonic Mucosa	Colon
18	chr1:173703400-173725000	Weak transcription	Psoas Muscle	Psoas
19	chr1:173703400-173726000	Weak transcription	Aorta	Aorta
20	chr1:173703400-173726000	Weak transcription	Spleen	Spleen
21	chr1:173703400-173726000	Weak transcription	NHEK	skin
22	chr1:173703600-173724400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:173703600-173724400	Weak transcription	GM12878-XiMat	blood
24	chr1:173703600-173724400	Weak transcription	HSMMtube	muscle
25	chr1:173703600-173724800	Weak transcription	Pancreas	Pancrea
26	chr1:173703800-173728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:173704200-173722200	Weak transcription	Osteobl	bone
28	chr1:173704200-173725000	Weak transcription	NHLF	lung
29	chr1:173704400-173722200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:173704400-173724400	Weak transcription	Gastric	stomach
31	chr1:173704400-173725000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:173704400-173725200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:173705000-173721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:173705000-173723600	Weak transcription	Lung	lung
35	chr1:173705400-173722000	Weak transcription	Thymus	Thymus
36	chr1:173705400-173724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:173705600-173721600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:173705600-173724800	Weak transcription	Brain Angular Gyrus	brain
39	chr1:173705800-173725400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:173706400-173722600	Weak transcription	HepG2	liver
41	chr1:173707600-173722600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:173707800-173721800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:173710200-173726000	Weak transcription	Brain Germinal Matrix	brain
44	chr1:173711600-173722000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:173711600-173722200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:173711600-173724800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:173711800-173721600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:173711800-173724000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:173712000-173721800	Weak transcription	Fetal Lung	lung
50	chr1:173713400-173731600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links