Variant report

Variant	rs2856319
Chromosome Location	chr12:11851360-11851361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12817477	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17210280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2724609	0.92[YRI][hapmap]
rs2724655	0.92[YRI][hapmap]
rs2856320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35742108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71455402	1.00[ASN][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11827800-11851800	Weak transcription	Ovary	ovary
3	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:11838400-11854200	Weak transcription	Fetal Heart	heart
7	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:11839200-11857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:11839400-11853400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:11839400-11859000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:11840800-11854400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:11840800-11859200	Weak transcription	Fetal Kidney	kidney
13	chr12:11841200-11854200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:11841200-11856800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:11841600-11853600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:11841800-11853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:11841800-11853800	Weak transcription	Small Intestine	intestine
18	chr12:11841800-11854200	Weak transcription	Fetal Lung	lung
19	chr12:11841800-11854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:11841800-11860200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:11841800-11867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:11842400-11854200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:11843000-11851800	Weak transcription	HSMM	muscle
24	chr12:11843200-11852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:11843200-11853600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:11843200-11853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:11843600-11852800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:11844200-11864600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:11845200-11852600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:11845800-11853600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:11846200-11858600	Weak transcription	Fetal Intestine Small	intestine
32	chr12:11846800-11852600	Weak transcription	Right Atrium	heart
33	chr12:11846800-11852600	Weak transcription	Spleen	Spleen
34	chr12:11846800-11857000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:11847000-11851400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:11847000-11854600	Weak transcription	Lung	lung
37	chr12:11847000-11854800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:11847000-11859400	Weak transcription	Brain Angular Gyrus	brain
39	chr12:11847400-11854400	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:11847600-11851600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr12:11847600-11854200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:11847800-11851800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:11848000-11872200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:11848200-11852800	Enhancers	Liver	Liver
45	chr12:11848400-11858600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:11848400-11861200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:11848600-11851400	Enhancers	Colon Smooth Muscle	Colon
48	chr12:11848600-11858000	Weak transcription	HSMMtube	muscle
49	chr12:11848800-11852600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:11848800-11854200	Weak transcription	Fetal Muscle Leg	muscle

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