Variant report

Variant	rs11058575
Chromosome Location	chr12:123006408-123006409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123006034-123007169	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:123006268-123006847	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:123006375-123006744	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:123006302-123006692	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:123005958-123006708	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:123006290-123006833	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:123006355-123006728	K562	blood:	n/a	n/a
8	POLR2A	chr12:123006315-123006722	Hela-S3	cervix:	n/a	n/a
9	WRNIP1	chr12:123006345-123006508	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:123006389-123006612	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:123006281-123006752	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123006380-123006647	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:123006257-123006846	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:123006313-123006753	GM12891	blood:	n/a	n/a
15	POLR2A	chr12:123006307-123006603	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:123006337-123006650	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
2	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:

No data

Variant related genes	Relation type
RSRC2	TF binding region
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10847103	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11058480	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11058607	0.84[AMR][1000 genomes]
rs12426619	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61453559	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61956097	0.88[EUR][1000 genomes]
rs7485035	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 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	chr12:122986200-123007600	Weak transcription	Right Atrium	heart
2	chr12:122986400-123007800	Strong transcription	Placenta	Placenta
3	chr12:122986800-123006600	Strong transcription	Brain Germinal Matrix	brain
4	chr12:122986800-123006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:122986800-123007000	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:122986800-123009400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:122987000-123007800	Strong transcription	Fetal Thymus	thymus
8	chr12:122987400-123006800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr12:122987400-123007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:122987400-123007200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:122987400-123007400	Strong transcription	Thymus	Thymus
12	chr12:122987400-123007600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:122987400-123007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:122987400-123007800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:122987600-123006600	Strong transcription	Primary T cells from cord blood	blood
16	chr12:122987600-123006800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:122987600-123007000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:122987600-123007000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:122987600-123007000	Strong transcription	Fetal Intestine Large	intestine
20	chr12:122987600-123007000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:122987600-123007600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:122987600-123007600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:122987600-123008000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:122987800-123006600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:122987800-123006600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:122987800-123006600	Strong transcription	Brain Anterior Caudate	brain
27	chr12:122987800-123006600	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr12:122987800-123006600	Strong transcription	HMEC	breast
29	chr12:122987800-123006800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:122987800-123006800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:122987800-123006800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:122987800-123007000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:122987800-123007000	Strong transcription	Brain Substantia Nigra	brain
34	chr12:122987800-123007200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:122987800-123007200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr12:122987800-123007200	Strong transcription	Fetal Lung	lung
37	chr12:122987800-123007200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:122987800-123007400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:122987800-123007400	Strong transcription	Fetal Brain Female	brain
40	chr12:122987800-123007600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:122987800-123007600	Strong transcription	NHEK	skin
42	chr12:122987800-123007800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:122987800-123007800	Strong transcription	Primary B cells from cord blood	blood
44	chr12:122987800-123008200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:122988000-123007400	Strong transcription	HUVEC	blood vessel
46	chr12:122988800-123007000	Strong transcription	Colonic Mucosa	Colon
47	chr12:122989000-123006600	Strong transcription	Hela-S3	cervix
48	chr12:122989400-123006600	Strong transcription	K562	blood
49	chr12:122989400-123006800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:122989400-123007000	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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