Variant report

Variant	rs7974950
Chromosome Location	chr12:122124695-122124696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122064331..122066305-chr12:122123658..122126561,2	MCF-7	breast:
2	chr12:121788975..121791215-chr12:122123232..122125237,2	K562	blood:
3	chr12:122115091..122119007-chr12:122123231..122126528,5	K562	blood:
4	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
5	chr12:122114958..122116591-chr12:122123026..122125296,2	K562	blood:
6	chr12:122122153..122127459-chr12:122235506..122240049,10	MCF-7	breast:
7	chr12:122122979..122124962-chr12:122238529..122240988,3	K562	blood:
8	chr12:121931227..121933297-chr12:122123567..122126169,2	K562	blood:
9	chr12:122123146..122128451-chr12:122240721..122245772,6	MCF-7	breast:
10	chr12:122123518..122126727-chr12:122231097..122233939,3	MCF-7	breast:
11	chr12:122101998..122103824-chr12:122123372..122125942,2	K562	blood:
12	chr12:122063044..122066006-chr12:122123378..122126114,2	MCF-7	breast:
13	chr12:122119277..122120923-chr12:122122798..122124808,2	K562	blood:
14	chr12:122103388..122106454-chr12:122121633..122126620,5	K562	blood:
15	chr12:122123533..122126462-chr12:122235379..122238113,4	K562	blood:
16	chr12:122122765..122125125-chr12:122221091..122223983,2	K562	blood:
17	chr12:122062918..122065816-chr12:122124530..122126213,2	K562	blood:
18	chr12:121903895..121905502-chr12:122123601..122125123,2	K562	blood:
19	chr12:122123408..122125129-chr12:122232861..122235031,2	K562	blood:
20	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000139725	Chromatin interaction

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

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

rs_ID	r²[population]
rs28429133	1.00[AMR][1000 genomes]
rs34085220	1.00[ASN][1000 genomes]
rs34753496	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802359	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122417	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56740297	1.00[AMR][1000 genomes]
rs57510086	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214002	1.00[AMR][1000 genomes]
rs58298336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437343	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59126522	1.00[AMR][1000 genomes]
rs59247553	1.00[AMR][1000 genomes]
rs59378678	1.00[AMR][1000 genomes]
rs59832608	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59867893	1.00[AMR][1000 genomes]
rs60606431	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61357438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133877	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968036	1.00[AMR][1000 genomes]
rs7968374	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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:122117000-122125800	Weak transcription	K562	blood
3	chr12:122117200-122125000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:122117600-122124800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:122117800-122124800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:122118000-122125000	Weak transcription	Brain Germinal Matrix	brain
7	chr12:122120200-122125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
9	chr12:122122600-122125000	Weak transcription	HepG2	liver
10	chr12:122122800-122124800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:122123600-122124800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:122123600-122125000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:122123800-122125000	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:122123800-122125000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:122123800-122125000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:122123800-122125000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122123800-122125000	Weak transcription	Ovary	ovary
18	chr12:122123800-122125200	Enhancers	Primary T cells from cord blood	blood
19	chr12:122123800-122125600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:122124200-122124800	Enhancers	Colon Smooth Muscle	Colon
21	chr12:122124200-122124800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:122124200-122124800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:122124200-122125000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:122124200-122125000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:122124200-122125000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:122124200-122125000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:122124200-122125000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:122124200-122125000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:122124200-122125000	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:122124200-122125000	Enhancers	Fetal Stomach	stomach
31	chr12:122124200-122125400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr12:122124200-122125400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:122124200-122125400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:122124400-122124800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:122124400-122124800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr12:122124400-122124800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:122124400-122124800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:122124400-122124800	Enhancers	Fetal Intestine Large	intestine
39	chr12:122124400-122124800	Enhancers	A549	lung
40	chr12:122124400-122124800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:122124400-122124800	Enhancers	NHEK	skin
42	chr12:122124400-122125000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:122124400-122125000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:122124400-122125000	Enhancers	Adipose Nuclei	Adipose
45	chr12:122124400-122125000	Enhancers	Liver	Liver
46	chr12:122124400-122125000	Weak transcription	Placenta	Placenta
47	chr12:122124400-122125000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:122124400-122125400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:122124400-122125400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:122124400-122125400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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