Variant report

Variant	rs4311571
Chromosome Location	chr7:16750488-16750489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16749812..16752201-chr7:16753789..16755924,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11764348	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13226380	1.00[AFR][1000 genomes]
rs13239334	1.00[CEU][hapmap]
rs13246772	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs36012943	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71540768	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs71540769	1.00[AFR][1000 genomes];0.89[AMR][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv887760	chr7:16714974-16776257	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16701800-16752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16710200-16752400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:16726800-16750600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:16738000-16750800	Weak transcription	Ovary	ovary
5	chr7:16738000-16751400	Weak transcription	Fetal Brain Male	brain
6	chr7:16738000-16754600	Weak transcription	Esophagus	oesophagus
7	chr7:16738000-16758800	Weak transcription	Stomach Mucosa	stomach
8	chr7:16739200-16754600	Weak transcription	Thymus	Thymus
9	chr7:16740000-16752600	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:16740600-16753200	Weak transcription	Right Ventricle	heart
11	chr7:16744400-16754200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:16745800-16751600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:16746000-16750800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:16746000-16751600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:16746000-16752600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:16746000-16753000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:16746000-16754000	Weak transcription	Primary B cells from cord blood	blood
18	chr7:16746200-16750800	Weak transcription	Liver	Liver
19	chr7:16746200-16753200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:16746200-16758200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:16746200-16759200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:16746400-16753600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:16746400-16754200	Weak transcription	Primary T cells from cord blood	blood
24	chr7:16746600-16752200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:16746600-16758800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:16746800-16750800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:16746800-16751800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:16747200-16754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:16747400-16751000	Weak transcription	HMEC	breast
30	chr7:16747400-16751200	Weak transcription	NHEK	skin
31	chr7:16747400-16754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:16747400-16758200	Weak transcription	Fetal Intestine Large	intestine
33	chr7:16747800-16770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:16748000-16750800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:16748400-16754200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:16748600-16752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:16748800-16751000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:16748800-16751000	Weak transcription	Fetal Stomach	stomach
39	chr7:16748800-16751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:16748800-16752600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:16748800-16752800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:16748800-16757000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:16748800-16757400	Weak transcription	Placenta	Placenta
44	chr7:16748800-16757800	Weak transcription	Fetal Intestine Small	intestine
45	chr7:16749000-16750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:16749000-16750600	Weak transcription	Fetal Thymus	thymus
47	chr7:16749000-16751600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:16749000-16752400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:16749000-16754400	Weak transcription	Dnd41	blood
50	chr7:16749000-16758200	Weak transcription	K562	blood

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