Variant report

Variant	rs10788796
Chromosome Location	chr1:150771703-150771704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150758246..150759867-chr1:150770276..150772324,2	K562	blood:
2	chr1:150766703..150768461-chr1:150769948..150772037,2	MCF-7	breast:
3	chr1:150769648..150771836-chr1:150777796..150780549,2	K562	blood:

Variant related genes	Relation type
ENSG00000143387	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10305668	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10788793	0.85[AMR][1000 genomes]
rs11204728	1.00[CEU][hapmap]
rs11204732	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1241576	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap]
rs13376166	1.00[ASN][1000 genomes]
rs1415146	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs267727	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs267728	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28498299	1.00[ASN][1000 genomes]
rs4970975	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6587519	1.00[CEU][hapmap]
rs6587522	1.00[CEU][hapmap]
rs6587534	1.00[CEU][hapmap]
rs6587538	1.00[ASN][1000 genomes]
rs6661777	1.00[ASN][1000 genomes]
rs6688430	1.00[CEU][hapmap]
rs7515228	1.00[CEU][hapmap]
rs7518440	1.00[CEU][hapmap]
rs7518546	1.00[CEU][hapmap]
rs7526690	0.85[AMR][1000 genomes]
rs7533914	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7536645	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs796407	0.85[AMR][1000 genomes];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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv2788	chr1:150755334-150800785	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv160180	chr1:150765276-150772670	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150760600-150779600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:150761200-150783200	Weak transcription	GM12878-XiMat	blood
3	chr1:150762400-150779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:150762400-150780000	Weak transcription	NHEK	skin
5	chr1:150764600-150781600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:150765400-150781400	Weak transcription	HMEC	breast
7	chr1:150765400-150793600	Weak transcription	Fetal Heart	heart
8	chr1:150766800-150773600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:150766800-150775800	Weak transcription	HUVEC	blood vessel
10	chr1:150767000-150779400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:150767200-150779400	Weak transcription	Fetal Brain Male	brain
12	chr1:150767400-150773000	Strong transcription	Fetal Stomach	stomach
13	chr1:150767400-150773600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:150767400-150773600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr1:150767600-150771800	Weak transcription	Thymus	Thymus
16	chr1:150767600-150772400	Strong transcription	Primary T cells from cord blood	blood
17	chr1:150767600-150773600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr1:150767600-150774000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:150767600-150783600	Weak transcription	Psoas Muscle	Psoas
20	chr1:150767800-150773200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:150767800-150773200	Strong transcription	Osteobl	bone
22	chr1:150767800-150773400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:150767800-150773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:150767800-150777000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:150767800-150778400	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:150767800-150780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:150768000-150772200	Strong transcription	Fetal Intestine Large	intestine
28	chr1:150768000-150772200	Strong transcription	Left Ventricle	heart
29	chr1:150768000-150772200	Strong transcription	Lung	lung
30	chr1:150768000-150772600	Strong transcription	Aorta	Aorta
31	chr1:150768000-150772600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:150768000-150776600	Strong transcription	Placenta	Placenta
33	chr1:150768000-150777000	Strong transcription	Liver	Liver
34	chr1:150768200-150772200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:150768200-150772200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:150768200-150772400	Strong transcription	Ovary	ovary
37	chr1:150768200-150772600	Strong transcription	Brain Hippocampus Middle	brain
38	chr1:150768200-150773000	Strong transcription	NHLF	lung
39	chr1:150768200-150773400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:150768200-150773600	Strong transcription	Adipose Nuclei	Adipose
41	chr1:150768200-150784000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:150768400-150771800	Strong transcription	Fetal Lung	lung
43	chr1:150768400-150772200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:150768600-150772200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr1:150768600-150772200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:150768600-150772200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:150768600-150772600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:150768600-150773400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:150768800-150772000	Strong transcription	Fetal Brain Female	brain
50	chr1:150768800-150772200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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