Variant report

Variant	rs10234186
Chromosome Location	chr7:149287919-149287920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149286594..149288759-chr7:149366383..149368042,2	K562	blood:
2	chr7:149267808..149269698-chr7:149286928..149288894,2	MCF-7	breast:
3	chr7:149286180..149288958-chr7:149320370..149321893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133624	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10081386	1.00[AMR][1000 genomes]
rs10215065	1.00[MEX][hapmap]
rs10216106	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235231	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236963	1.00[AMR][1000 genomes]
rs10238762	1.00[AMR][1000 genomes]
rs10247081	0.96[AFR][1000 genomes]
rs10248663	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252201	0.83[AMR][1000 genomes]
rs10261861	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs10265848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272158	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10281165	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28375806	1.00[AMR][1000 genomes]
rs28396902	1.00[AMR][1000 genomes]
rs28456067	0.83[AMR][1000 genomes]
rs28465683	0.83[AMR][1000 genomes]
rs28586594	1.00[AMR][1000 genomes]
rs28660555	0.83[AMR][1000 genomes]
rs2888589	1.00[AMR][1000 genomes]
rs55953655	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57933524	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6965066	1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs6977920	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469493	0.83[AMR][1000 genomes]
rs73471483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73475606	1.00[AMR][1000 genomes]
rs7777819	1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7780303	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7786938	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7792838	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7793341	1.00[AMR][1000 genomes]
rs7808284	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs7808416	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs9986834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381161	chr7:149188660-149320362	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1033447	chr7:149191027-149319439	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3411167	chr7:149193073-149320341	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3386483	chr7:149254414-149295648	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3399090	chr7:149254543-149296041	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3342345	chr7:149254782-149296036	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3447751	chr7:149263351-149298027	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription 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	39 gene(s)	inside rSNPs	diseases
11	esv3411352	chr7:149278270-149326439	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	esv3389030	chr7:149278297-149326450	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3401702	chr7:149278326-149326388	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149276800-149291200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:149277200-149291200	Strong transcription	Adipose Nuclei	Adipose
3	chr7:149277400-149296400	Weak transcription	Psoas Muscle	Psoas
4	chr7:149277600-149291200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:149278200-149294800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:149278200-149297200	Strong transcription	Fetal Intestine Large	intestine
7	chr7:149278400-149290000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr7:149278600-149296000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:149278600-149296200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:149278600-149296600	Strong transcription	Dnd41	blood
11	chr7:149279000-149319600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:149279200-149291200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:149279200-149296000	Strong transcription	Fetal Thymus	thymus
14	chr7:149279200-149297000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:149279400-149290600	Strong transcription	Lung	lung
16	chr7:149279400-149290800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:149279400-149295400	Strong transcription	Placenta	Placenta
18	chr7:149279400-149301400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr7:149279600-149288000	Strong transcription	HepG2	liver
20	chr7:149279600-149296600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:149279800-149289600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:149279800-149296000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:149279800-149309800	Weak transcription	Small Intestine	intestine
24	chr7:149280000-149313000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:149280200-149295000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:149280200-149295400	Strong transcription	Thymus	Thymus
27	chr7:149280400-149313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:149281000-149289400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:149281400-149301400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:149281600-149290200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr7:149281800-149292600	Weak transcription	Fetal Kidney	kidney
32	chr7:149281800-149293600	Strong transcription	Primary T cells from cord blood	blood
33	chr7:149281800-149318400	Strong transcription	Liver	Liver
34	chr7:149281800-149319800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:149282000-149290000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:149282000-149290600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:149282000-149291400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:149282000-149295400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:149282000-149295400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:149282000-149301000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:149282000-149314400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:149282000-149318800	Strong transcription	K562	blood
43	chr7:149282200-149288000	Strong transcription	GM12878-XiMat	blood
44	chr7:149282200-149289400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr7:149282200-149291400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:149282200-149293800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:149282200-149299000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:149282200-149299200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:149282200-149307400	Strong transcription	Fetal Muscle Leg	muscle
50	chr7:149282400-149289400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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