Variant report

Variant	rs12073168
Chromosome Location	chr1:184864127-184864128
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	chr1:184862707..184866254-chr1:184866264..184869963,3	K562	blood:
2	chr1:184859311..184860995-chr1:184863087..184865587,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16823601	0.92[CHD][hapmap]
rs16823613	0.93[CHD][hapmap]
rs16823651	1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs234669	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs3737948	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6662843	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:184843000-184866800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
7	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:184854000-184868600	Weak transcription	Fetal Stomach	stomach
9	chr1:184855600-184868800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:184855600-184869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:184855800-184868600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:184857200-184875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:184858600-184869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:184859200-184872400	Weak transcription	Right Atrium	heart
15	chr1:184859400-184866400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:184859400-184866600	Weak transcription	Right Ventricle	heart
17	chr1:184859400-184870800	Weak transcription	Small Intestine	intestine
18	chr1:184859800-184869400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:184860000-184864200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:184860000-184866800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:184860000-184867000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:184860000-184869400	Weak transcription	Pancreas	Pancrea
23	chr1:184860000-184871800	Weak transcription	NHLF	lung
24	chr1:184860000-184874200	Weak transcription	Gastric	stomach
25	chr1:184860000-184874200	Weak transcription	NHDF-Ad	bronchial
26	chr1:184860200-184866200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:184860200-184866600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:184860200-184871000	Weak transcription	K562	blood
29	chr1:184860200-184871800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:184860400-184867000	Weak transcription	Aorta	Aorta
31	chr1:184860600-184865400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:184860600-184866200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:184860600-184874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:184860800-184867000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:184860800-184867000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:184860800-184869400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:184860800-184875000	Weak transcription	Psoas Muscle	Psoas
38	chr1:184861400-184868400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:184861600-184864600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:184862200-184866400	Weak transcription	Left Ventricle	heart
41	chr1:184862200-184866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:184862200-184874600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:184862400-184866400	Weak transcription	GM12878-XiMat	blood
44	chr1:184862400-184874000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:184862400-184874200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:184862400-184874600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:184862600-184864800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:184862800-184864200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:184863000-184866200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:184863000-184866600	Weak transcription	Fetal Muscle Trunk	muscle

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