Variant report

Variant	rs11143717
Chromosome Location	chr9:71401335-71401336
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71398863..71402159-chr9:71407140..71410574,3	K562	blood:
2	chr9:71393340..71397150-chr9:71397904..71401826,5	MCF-7	breast:
3	chr9:71393697..71395796-chr9:71400941..71403104,3	K562	blood:
4	chr9:71400597..71404451-chr9:71406708..71409668,4	MCF-7	breast:
5	chr9:71401239..71403328-chr9:71403881..71406590,2	K562	blood:

Variant related genes	Relation type
ENSG00000187866	Chromatin interaction
ENSG00000236998	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11143714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12341286	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71396000-71402400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:71396000-71403400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:71396000-71408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:71396200-71409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:71397200-71402200	Weak transcription	A549	lung
6	chr9:71397200-71403800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:71397200-71404200	Weak transcription	Esophagus	oesophagus
8	chr9:71397200-71409600	Weak transcription	Colonic Mucosa	Colon
9	chr9:71397200-71417400	Weak transcription	Lung	lung
10	chr9:71397800-71401400	Weak transcription	Placenta	Placenta
11	chr9:71397800-71408000	Weak transcription	Gastric	stomach
12	chr9:71398600-71404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:71398600-71405400	Strong transcription	Primary B cells from cord blood	blood
14	chr9:71398800-71401800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:71398800-71401800	Weak transcription	Aorta	Aorta
16	chr9:71398800-71406000	Weak transcription	Spleen	Spleen
17	chr9:71398800-71408000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:71398800-71409800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:71399000-71401800	Weak transcription	Fetal Intestine Small	intestine
20	chr9:71399000-71403000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:71399000-71403000	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:71399000-71403800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr9:71399000-71404000	Weak transcription	Ovary	ovary
24	chr9:71399000-71405600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:71399000-71406200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:71399000-71408400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:71399000-71408400	Weak transcription	Stomach Mucosa	stomach
28	chr9:71399000-71420200	Weak transcription	Fetal Stomach	stomach
29	chr9:71399200-71407800	Weak transcription	GM12878-XiMat	blood
30	chr9:71399400-71401600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:71399400-71401800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:71399400-71404800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:71399600-71403000	Weak transcription	HepG2	liver
34	chr9:71399600-71407200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:71399800-71401600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:71399800-71413200	Weak transcription	Dnd41	blood
37	chr9:71400000-71403000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:71400200-71401600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr9:71400200-71401800	Weak transcription	Primary T cells from cord blood	blood
40	chr9:71400200-71401800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr9:71400200-71403000	Weak transcription	Fetal Intestine Large	intestine
42	chr9:71400200-71403000	Weak transcription	Psoas Muscle	Psoas
43	chr9:71400200-71403200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:71400200-71405800	Weak transcription	Brain Angular Gyrus	brain
45	chr9:71400200-71406000	Weak transcription	Colon Smooth Muscle	Colon
46	chr9:71400400-71401600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:71400400-71402800	Weak transcription	Thymus	Thymus
48	chr9:71400400-71403600	Weak transcription	Right Ventricle	heart
49	chr9:71400400-71404600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:71400400-71408000	Weak transcription	K562	blood

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