Variant report

Variant	rs708771
Chromosome Location	chr1:226912536-226912537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226907282..226909315-chr1:226911559..226915839,4	K562	blood:
2	chr1:226911924..226913997-chr1:226924607..226927471,2	MCF-7	breast:
3	chr1:226911625..226913719-chr1:226914585..226916735,2	K562	blood:
4	chr1:226912039..226913719-chr1:226915235..226917439,2	K562	blood:
5	chr1:226890173..226891952-chr1:226912379..226914406,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143772	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs708776	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835668	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226909400-226913800	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:226909600-226919000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:226909800-226912800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:226909800-226912800	Strong transcription	Dnd41	blood
7	chr1:226909800-226913600	Genic enhancers	Spleen	Spleen
8	chr1:226909800-226914000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:226909800-226918800	Genic enhancers	Fetal Thymus	thymus
10	chr1:226909800-226919000	Genic enhancers	Primary B cells from cord blood	blood
11	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr1:226910000-226912600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:226910000-226912800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:226910000-226912800	Genic enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:226910000-226913200	Genic enhancers	Thymus	Thymus
16	chr1:226910000-226913800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:226910000-226916000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
19	chr1:226910200-226912600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:226910200-226912600	Enhancers	Right Ventricle	heart
21	chr1:226910200-226912800	Enhancers	Placenta	Placenta
22	chr1:226910200-226913000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:226910200-226913400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:226910200-226916800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:226910200-226918000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr1:226910200-226922400	Weak transcription	Fetal Brain Male	brain
27	chr1:226910400-226912600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:226910400-226912600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:226910400-226912800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:226910400-226912800	Enhancers	Stomach Mucosa	stomach
31	chr1:226910400-226913000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:226910400-226913600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:226910600-226912800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:226910600-226913200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr1:226910600-226914000	Genic enhancers	Lung	lung
36	chr1:226910600-226917000	Enhancers	Right Atrium	heart
37	chr1:226910800-226912600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:226910800-226913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:226910800-226913400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:226910800-226913600	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:226910800-226913600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:226910800-226914000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:226910800-226920400	Weak transcription	Colonic Mucosa	Colon
44	chr1:226911000-226912800	Genic enhancers	Fetal Intestine Small	intestine
45	chr1:226911000-226912800	Enhancers	HUVEC	blood vessel
46	chr1:226911000-226913000	Enhancers	Fetal Lung	lung
47	chr1:226911000-226913200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:226911000-226913200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:226911000-226913200	Enhancers	Fetal Kidney	kidney
50	chr1:226911000-226913600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links