Variant report

Variant	rs1440972
Chromosome Location	chr7:127412379-127412380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127412000..127413898-chr7:127423427..127425410,2	MCF-7	breast:
2	chr7:127410218..127412934-chr7:127422329..127425135,2	MCF-7	breast:
3	chr7:127297314..127299232-chr7:127410523..127413406,2	K562	blood:
4	chr7:127401749..127405329-chr7:127409862..127412962,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10229165	0.84[ASN][1000 genomes]
rs10229583	1.00[CHB][hapmap]
rs10239440	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10249616	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10265516	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270127	0.90[CEU][hapmap];0.88[JPT][hapmap]
rs10280863	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11765620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767317	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773160	0.93[ASN][1000 genomes]
rs3757764	0.94[CEU][hapmap];0.94[CHB][hapmap]
rs3757768	0.88[AFR][1000 genomes]
rs3808089	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4473953	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57103099	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6467152	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6943219	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs6943385	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6946292	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6947779	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953134	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965698	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969353	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6976887	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6979634	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs73450923	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7778413	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781189	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7783102	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7783478	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7784200	0.88[CHB][hapmap]
rs7786786	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7792695	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806176	0.83[CHB][hapmap]
rs806178	0.83[CHB][hapmap]
rs806179	0.89[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1793220	chr7:127400473-127413555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
3	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
4	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
5	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:127401000-127422000	Weak transcription	Small Intestine	intestine
9	chr7:127401000-127422400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:127401000-127427000	Weak transcription	HepG2	liver
11	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:127402800-127422200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:127405400-127412400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:127407400-127419800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:127407400-127420200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
19	chr7:127407400-127447600	Weak transcription	Dnd41	blood
20	chr7:127407600-127415600	Weak transcription	NHEK	skin
21	chr7:127407600-127422000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:127408000-127418600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:127408000-127421000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:127408000-127421800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:127408200-127419600	Weak transcription	Esophagus	oesophagus
28	chr7:127408200-127422200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:127408600-127418000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:127408600-127418600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:127408600-127418600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:127408600-127419000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:127408600-127422200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:127409000-127413800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:127409200-127412600	Enhancers	Brain Angular Gyrus	brain
37	chr7:127409400-127412600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:127409400-127416800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:127409400-127430200	Weak transcription	Liver	Liver
40	chr7:127409600-127422000	Weak transcription	A549	lung
41	chr7:127409600-127422400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:127410000-127413600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:127410000-127413600	Weak transcription	HUVEC	blood vessel
44	chr7:127410200-127415000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:127410200-127415800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:127410200-127415800	Weak transcription	HMEC	breast
47	chr7:127410200-127422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:127410200-127425000	Weak transcription	Ovary	ovary
49	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
50	chr7:127410400-127413000	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links