Variant report

Variant	rs1861485
Chromosome Location	chr12:11822011-11822012
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11815851..11817515-chr12:11821164..11823181,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11833038	1.00[AMR][1000 genomes]
rs2541120	1.00[AMR][1000 genomes]
rs2541134	1.00[AMR][1000 genomes]
rs2541136	1.00[AMR][1000 genomes]
rs2724591	1.00[AMR][1000 genomes]
rs2724607	1.00[AMR][1000 genomes]
rs2724647	1.00[AMR][1000 genomes]
rs2856312	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2856318	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
2	chr12:11812000-11825400	Weak transcription	HUVEC	blood vessel
3	chr12:11812200-11832600	Weak transcription	A549	lung
4	chr12:11812200-11837400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:11812400-11830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:11812800-11825400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:11813200-11822400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:11814400-11827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:11814800-11826600	Weak transcription	Osteobl	bone
10	chr12:11814800-11829000	Weak transcription	Fetal Intestine Large	intestine
11	chr12:11815000-11825600	Weak transcription	Small Intestine	intestine
12	chr12:11815000-11826600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:11815000-11836800	Weak transcription	NHEK	skin
14	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:11815200-11833800	Weak transcription	Colonic Mucosa	Colon
16	chr12:11815200-11837800	Weak transcription	NH-A	brain
17	chr12:11815400-11825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:11816000-11830800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:11816200-11825200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:11816400-11825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:11816400-11825600	Weak transcription	Aorta	Aorta
22	chr12:11816400-11826600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:11816600-11824200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:11816800-11825200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:11816800-11825200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:11817000-11825200	Weak transcription	Brain Anterior Caudate	brain
27	chr12:11817200-11825000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:11817200-11827000	Weak transcription	HSMM	muscle
29	chr12:11817400-11829800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:11817800-11825600	Weak transcription	Esophagus	oesophagus
31	chr12:11818000-11827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:11818200-11822200	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:11818200-11825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:11818400-11825600	Weak transcription	Fetal Stomach	stomach
35	chr12:11818600-11823000	Enhancers	Placenta	Placenta
36	chr12:11818600-11826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:11818600-11826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:11818800-11822600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:11818800-11823000	Enhancers	Thymus	Thymus
40	chr12:11818800-11825600	Weak transcription	Stomach Mucosa	stomach
41	chr12:11819000-11823400	Weak transcription	Psoas Muscle	Psoas
42	chr12:11819000-11824600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:11819400-11825000	Weak transcription	Fetal Brain Male	brain
44	chr12:11819400-11825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:11819400-11826400	Weak transcription	NHLF	lung
46	chr12:11819600-11822400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:11819600-11823400	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:11819600-11828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:11820000-11823000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:11820000-11825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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