Variant report

Variant	rs10132692
Chromosome Location	chr14:55525122-55525123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:55524777-55525262	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:55524587-55525431	A549	lung:	n/a	n/a
3	POLR2A	chr14:55524598-55525137	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:55524680-55525431	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:55524528-55525134	GM12892	blood:	n/a	n/a
6	POLR2A	chr14:55524497-55525200	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:55524309-55525307	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:55524500-55525168	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:55525113-55525402	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55524853..55528129-chr14:55532320..55535008,3	MCF-7	breast:
2	chr14:55524555..55526543-chr14:55613786..55615923,2	MCF-7	breast:
3	chr14:55523578..55526318-chr14:55741498..55744199,2	K562	blood:
4	chr14:55524393..55526370-chr14:55595207..55597069,2	MCF-7	breast:
5	chr14:55524833..55527263-chr14:55546482..55548147,2	MCF-7	breast:
6	chr14:55525084..55526733-chr14:55558948..55561565,2	K562	blood:
7	chr14:55523912..55526776-chr14:55532396..55534870,2	K562	blood:
8	chr14:55522230..55525197-chr14:55589404..55592013,2	K562	blood:

No data

Variant related genes	Relation type
MAPK1IP1L	TF binding region
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134274	1.00[AMR][1000 genomes]
rs10136782	1.00[AMR][1000 genomes]
rs10140189	1.00[AMR][1000 genomes]
rs10141452	1.00[AMR][1000 genomes]
rs10143025	1.00[AMR][1000 genomes]
rs10144957	1.00[AMR][1000 genomes]
rs10146096	1.00[AMR][1000 genomes]
rs10146709	1.00[AMR][1000 genomes]
rs10147430	1.00[AMR][1000 genomes]
rs10151598	1.00[AMR][1000 genomes]
rs13379161	1.00[AMR][1000 genomes]
rs28436729	1.00[AMR][1000 genomes]
rs28460177	1.00[AMR][1000 genomes]
rs28478406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489712	1.00[AMR][1000 genomes]
rs28532794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323277	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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55519200-55529400	Weak transcription	Spleen	Spleen
2	chr14:55519400-55529200	Weak transcription	Pancreas	Pancrea
3	chr14:55519600-55528600	Weak transcription	Colonic Mucosa	Colon
4	chr14:55519600-55529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:55519600-55529400	Weak transcription	Esophagus	oesophagus
6	chr14:55519600-55534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:55519800-55526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:55520000-55526000	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:55520000-55528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:55520000-55529400	Weak transcription	Aorta	Aorta
12	chr14:55520000-55529400	Weak transcription	Fetal Brain Female	brain
13	chr14:55520200-55528000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:55520200-55528400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:55520200-55529000	Weak transcription	Brain Anterior Caudate	brain
16	chr14:55520200-55529000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:55520200-55529200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:55520200-55529600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:55520200-55538400	Weak transcription	Fetal Kidney	kidney
20	chr14:55520400-55526000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:55520400-55526600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:55520400-55529000	Weak transcription	Brain Germinal Matrix	brain
23	chr14:55520400-55538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:55520600-55526600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:55520600-55528400	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:55520600-55528600	Weak transcription	Stomach Mucosa	stomach
27	chr14:55520600-55528600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:55520600-55529000	Weak transcription	Fetal Lung	lung
29	chr14:55520600-55529000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:55520600-55529200	Weak transcription	Brain Substantia Nigra	brain
31	chr14:55520600-55533600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:55520600-55535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:55520600-55538000	Weak transcription	Psoas Muscle	Psoas
34	chr14:55520600-55538600	Weak transcription	Fetal Brain Male	brain
35	chr14:55520800-55526800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:55520800-55529400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:55520800-55529400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:55520800-55534800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:55520800-55535200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:55521000-55529600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:55521200-55528400	Weak transcription	Liver	Liver
42	chr14:55521200-55529400	Weak transcription	Right Ventricle	heart
43	chr14:55521400-55526400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:55521600-55526600	Strong transcription	NHDF-Ad	bronchial
45	chr14:55521600-55529400	Weak transcription	Primary B cells from cord blood	blood
46	chr14:55521600-55529400	Weak transcription	HSMMtube	muscle
47	chr14:55521600-55535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:55521600-55535400	Strong transcription	NHEK	skin
49	chr14:55521800-55526000	Strong transcription	Fetal Intestine Small	intestine
50	chr14:55522000-55525600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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