Variant report

Variant	rs7953515
Chromosome Location	chr12:46224814-46224815
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	chr12:46123594..46125576-chr12:46224084..46225803,2	K562	blood:
2	chr12:46224306..46227075-chr12:46239166..46240807,2	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10161001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10161510	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10880858	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11183135	1.00[EUR][1000 genomes]
rs11183136	1.00[EUR][1000 genomes]
rs11183197	1.00[EUR][1000 genomes]
rs11183199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183202	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297214	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12301665	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12302862	1.00[EUR][1000 genomes]
rs12305110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316361	0.85[AMR][1000 genomes]
rs12316726	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321106	1.00[EUR][1000 genomes]
rs28583490	1.00[EUR][1000 genomes]
rs55916269	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56338250	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58253063	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59340060	1.00[EUR][1000 genomes]
rs6582575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132585	1.00[EUR][1000 genomes]
rs7133123	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296694	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303119	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308856	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309921	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315365	1.00[EUR][1000 genomes]
rs74081382	1.00[EUR][1000 genomes]
rs74081384	1.00[EUR][1000 genomes]
rs74081401	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084208	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964495	1.00[EUR][1000 genomes]
rs7972650	1.00[EUR][1000 genomes]
rs7973967	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975170	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975408	0.89[AFR][1000 genomes];1.00[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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46164600-46230000	Weak transcription	Thymus	Thymus
2	chr12:46177600-46243400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:46182600-46230600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:46183800-46243400	Weak transcription	Small Intestine	intestine
5	chr12:46184600-46231200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:46186000-46233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:46186800-46243400	Weak transcription	HSMMtube	muscle
8	chr12:46194000-46228200	Weak transcription	Fetal Stomach	stomach
9	chr12:46196400-46243200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:46198000-46229600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:46198200-46226200	Weak transcription	Esophagus	oesophagus
12	chr12:46200600-46244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:46200800-46227400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:46201800-46233200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:46202200-46233200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:46202600-46233400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:46202600-46243400	Weak transcription	Aorta	Aorta
18	chr12:46202800-46230400	Weak transcription	Left Ventricle	heart
19	chr12:46202800-46237800	Weak transcription	Lung	lung
20	chr12:46202800-46243200	Weak transcription	Ovary	ovary
21	chr12:46202800-46243200	Weak transcription	Right Ventricle	heart
22	chr12:46203800-46243800	Weak transcription	Spleen	Spleen
23	chr12:46204000-46230200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:46204000-46233600	Weak transcription	Psoas Muscle	Psoas
25	chr12:46204200-46233200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:46205000-46230200	Weak transcription	Osteobl	bone
27	chr12:46205800-46225800	Weak transcription	Brain Germinal Matrix	brain
28	chr12:46207000-46230200	Weak transcription	HMEC	breast
29	chr12:46207400-46244400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:46208400-46228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:46213200-46233200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:46213800-46228200	Strong transcription	Dnd41	blood
33	chr12:46214400-46244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:46214600-46233600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:46214800-46233600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:46215800-46230200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:46215800-46233000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:46215800-46244000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:46216200-46230200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:46216200-46233400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:46216200-46244000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:46216400-46233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:46216400-46233000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:46217000-46230400	Weak transcription	Hela-S3	cervix
45	chr12:46217200-46231200	Weak transcription	NHEK	skin
46	chr12:46217800-46229800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:46218000-46225000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:46218000-46227200	Weak transcription	Fetal Heart	heart
49	chr12:46218000-46227200	Weak transcription	HepG2	liver
50	chr12:46218000-46227400	Weak transcription	Duodenum Mucosa	Duodenum

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