Variant report

Variant	rs11143706
Chromosome Location	chr9:71396859-71396860
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71339890..71342700-chr9:71395822..71397437,2	K562	blood:
2	chr9:71395139..71397780-chr9:71401800..71403329,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11143615	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11143622	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs11143638	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11143694	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11143732	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11143734	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11143833	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11143868	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11143893	0.92[EUR][1000 genomes]
rs11143995	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11143997	0.83[EUR][1000 genomes]
rs11144031	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11144102	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11144115	0.83[EUR][1000 genomes]
rs11144174	1.00[CEU][hapmap]
rs12001018	1.00[CEU][hapmap]
rs12236602	0.92[EUR][1000 genomes]
rs7023844	1.00[CEU][hapmap]
rs7024257	1.00[CEU][hapmap]
rs7027811	1.00[CEU][hapmap]
rs7030009	1.00[CEU][hapmap]
rs7034288	1.00[CEU][hapmap]
rs7042296	1.00[CEU][hapmap]
rs7043816	1.00[CEU][hapmap]

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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71395200-71397800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:71395400-71397200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr9:71395600-71400200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr9:71395800-71397000	Weak transcription	Gastric	stomach
5	chr9:71395800-71398800	Enhancers	Small Intestine	intestine
6	chr9:71395800-71400200	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:71396000-71397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:71396000-71397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:71396000-71397000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr9:71396000-71397200	Flanking Active TSS	GM12878-XiMat	blood
11	chr9:71396000-71397400	Enhancers	Primary B cells from cord blood	blood
12	chr9:71396000-71397800	Enhancers	Brain Substantia Nigra	brain
13	chr9:71396000-71398000	Enhancers	Stomach Mucosa	stomach
14	chr9:71396000-71398600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr9:71396000-71399000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:71396000-71399000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:71396000-71399200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:71396000-71400400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr9:71396000-71402400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:71396000-71403400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:71396000-71408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:71396200-71397000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr9:71396200-71397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:71396200-71397000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:71396200-71397000	Enhancers	Fetal Muscle Leg	muscle
26	chr9:71396200-71397000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:71396200-71397000	Weak transcription	NH-A	brain
28	chr9:71396200-71397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:71396200-71397200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:71396200-71397200	Enhancers	A549	lung
31	chr9:71396200-71397400	Weak transcription	HSMM	muscle
32	chr9:71396200-71397800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:71396200-71397800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:71396200-71397800	Enhancers	Hela-S3	cervix
35	chr9:71396200-71398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:71396200-71398000	Enhancers	Fetal Stomach	stomach
37	chr9:71396200-71398000	Enhancers	Osteobl	bone
38	chr9:71396200-71398800	Enhancers	Fetal Intestine Large	intestine
39	chr9:71396200-71399000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr9:71396200-71399000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr9:71396200-71399000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:71396200-71399000	Enhancers	HUVEC	blood vessel
43	chr9:71396200-71399200	Enhancers	Primary hematopoietic stem cells	blood
44	chr9:71396200-71399200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:71396200-71399600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:71396200-71400600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr9:71396200-71400800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr9:71396200-71400800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr9:71396200-71400800	Enhancers	Brain Hippocampus Middle	brain
50	chr9:71396200-71400800	Enhancers	Fetal Heart	heart

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