Variant report

Variant	rs2954983
Chromosome Location	chr12:11849795-11849796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11800656..11803468-chr12:11847048..11850278,3	MCF-7	breast:
2	chr12:11837334..11838926-chr12:11847381..11850027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2724609	0.91[AFR][1000 genomes]
rs2724650	0.93[AFR][1000 genomes]
rs2724655	0.93[AFR][1000 genomes]
rs2724656	0.86[AFR][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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:11822000-11850000	Weak transcription	HMEC	breast
3	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:11827800-11851800	Weak transcription	Ovary	ovary
7	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:11838000-11850000	Weak transcription	HUVEC	blood vessel
10	chr12:11838000-11850400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:11838400-11854200	Weak transcription	Fetal Heart	heart
13	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:11839200-11857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:11839400-11853400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:11839400-11859000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:11840800-11854400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:11840800-11859200	Weak transcription	Fetal Kidney	kidney
19	chr12:11841200-11854200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:11841200-11856800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:11841600-11853600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:11841800-11853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:11841800-11853800	Weak transcription	Small Intestine	intestine
24	chr12:11841800-11854200	Weak transcription	Fetal Lung	lung
25	chr12:11841800-11854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:11841800-11860200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:11841800-11867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:11842400-11854200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:11843000-11851800	Weak transcription	HSMM	muscle
30	chr12:11843200-11852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:11843200-11853600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:11843200-11853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:11843600-11852800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:11844200-11864600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:11845200-11852600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:11845800-11853600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:11846200-11858600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:11846600-11851200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr12:11846800-11852600	Weak transcription	Right Atrium	heart
40	chr12:11846800-11852600	Weak transcription	Spleen	Spleen
41	chr12:11846800-11857000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:11847000-11851400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:11847000-11854600	Weak transcription	Lung	lung
44	chr12:11847000-11854800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:11847000-11859400	Weak transcription	Brain Angular Gyrus	brain
46	chr12:11847400-11854400	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:11847600-11850400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:11847600-11851600	ZNF genes & repeats	GM12878-XiMat	blood
49	chr12:11847600-11854200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:11847800-11851800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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