Variant report

Variant	rs7975950
Chromosome Location	chr12:57796029-57796030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57795305..57796807-chr12:57813980..57816529,2	MCF-7	breast:
2	chr12:57794748..57796963-chr12:57845333..57847203,2	K562	blood:
3	chr12:57793676..57796142-chr12:57824894..57826820,2	K562	blood:

Variant related genes	Relation type
ENSG00000258001	Chromatin interaction
ENSG00000139269	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10735872	1.00[AMR][1000 genomes]
rs10747779	1.00[AFR][1000 genomes]
rs10783817	1.00[AMR][1000 genomes]
rs10783821	1.00[AMR][1000 genomes]
rs1082999	0.86[AFR][1000 genomes]
rs11172210	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1669300	1.00[AMR][1000 genomes]
rs1709867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4760242	1.00[AMR][1000 genomes]
rs511225	1.00[AMR][1000 genomes]
rs6421187	1.00[AMR][1000 genomes]
rs6581132	1.00[AMR][1000 genomes]
rs6581133	1.00[AMR][1000 genomes]
rs6581137	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7136699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294847	1.00[AMR][1000 genomes]
rs7488256	1.00[AMR][1000 genomes]
rs776336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963998	0.82[AFR][1000 genomes];1.00[AMR][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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv516655	chr12:57763520-57811414	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57762800-57811800	Weak transcription	Pancreas	Pancrea
3	chr12:57763000-57796800	Weak transcription	Colonic Mucosa	Colon
4	chr12:57763000-57799200	Weak transcription	Psoas Muscle	Psoas
5	chr12:57763000-57800400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
7	chr12:57770800-57824000	Weak transcription	Gastric	stomach
8	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
10	chr12:57783600-57797600	Weak transcription	Hela-S3	cervix
11	chr12:57783600-57805000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:57783800-57799200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:57783800-57800200	Weak transcription	HSMMtube	muscle
14	chr12:57783800-57808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:57783800-57809000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:57784200-57809800	Weak transcription	Osteobl	bone
18	chr12:57784200-57818000	Weak transcription	HSMM	muscle
19	chr12:57784400-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:57784400-57813600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:57784400-57816400	Weak transcription	NHLF	lung
22	chr12:57786400-57797400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:57786400-57815600	Weak transcription	Fetal Brain Female	brain
24	chr12:57786600-57805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:57786600-57813400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:57787000-57811400	Weak transcription	Stomach Mucosa	stomach
27	chr12:57787800-57812000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:57788400-57804200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:57788600-57805200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:57788600-57815200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:57788600-57823200	Weak transcription	NHDF-Ad	bronchial
32	chr12:57789200-57823000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:57789400-57810400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:57789400-57813400	Weak transcription	Lung	lung
35	chr12:57789400-57823200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:57789600-57808400	Weak transcription	Ovary	ovary
37	chr12:57789600-57810200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:57789600-57811400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:57789600-57815600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:57789600-57815800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:57789600-57816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:57789800-57800600	Weak transcription	HepG2	liver
43	chr12:57789800-57805200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:57789800-57805200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:57789800-57808400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:57789800-57809000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:57789800-57809600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:57789800-57813200	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:57789800-57814400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:57789800-57814600	Weak transcription	Fetal Muscle Trunk	muscle

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