Variant report

Variant	rs17133246
Chromosome Location	chr7:103831720-103831721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103828241..103832617-chr7:103845942..103850050,7	K562	blood:
2	chr7:103831421..103833734-chr7:103840628..103842889,2	MCF-7	breast:
3	chr7:103831029..103833821-chr7:103834047..103836928,2	K562	blood:
4	chr7:103826365..103828969-chr7:103829886..103833367,4	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10234499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10240040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10263828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10275484	0.87[AMR][1000 genomes]
rs10276243	1.00[EUR][1000 genomes]
rs10487192	1.00[EUR][1000 genomes]
rs12112576	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2307409	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28481813	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28773535	0.87[AMR][1000 genomes]
rs28820003	1.00[EUR][1000 genomes]
rs59290626	0.99[AFR][1000 genomes]
rs73415704	1.00[EUR][1000 genomes]
rs73415717	1.00[EUR][1000 genomes]
rs7810496	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv527105	chr7:103826002-103836132	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
2	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
3	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
4	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
5	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
6	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
7	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
9	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
11	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:103818600-103832400	Strong transcription	Liver	Liver
13	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:103822200-103836400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:103822600-103839600	Strong transcription	K562	blood
22	chr7:103823000-103832600	Strong transcription	Dnd41	blood
23	chr7:103823000-103839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:103823000-103839200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:103823800-103838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:103823800-103839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:103823800-103839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:103823800-103839200	Weak transcription	Esophagus	oesophagus
29	chr7:103824000-103832600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:103824200-103835400	Weak transcription	NHEK	skin
31	chr7:103824200-103838400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:103824400-103832600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:103824400-103837200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:103824400-103838600	Weak transcription	Brain Angular Gyrus	brain
35	chr7:103825000-103831800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:103825000-103831800	Weak transcription	Ovary	ovary
37	chr7:103825200-103831800	Weak transcription	NH-A	brain
38	chr7:103825200-103839600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:103825600-103832200	Weak transcription	Thymus	Thymus
40	chr7:103825600-103838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:103826400-103832800	Strong transcription	Primary T cells from cord blood	blood
42	chr7:103826400-103844400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:103826600-103832600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:103826800-103832400	Strong transcription	HSMM	muscle
45	chr7:103826800-103844600	Strong transcription	Adipose Nuclei	Adipose
46	chr7:103827200-103832800	Strong transcription	Placenta	Placenta
47	chr7:103827200-103833000	Strong transcription	Fetal Intestine Large	intestine
48	chr7:103827400-103844600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:103828000-103833200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:103828600-103837400	Weak transcription	Colon Smooth Muscle	Colon

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