Variant report

Variant	rs757342
Chromosome Location	chr12:48177170-48177171
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48174640-48177283	K562	blood:	n/a	n/a
2	POLR2A	chr12:48174495-48178624	ECC-1	luminal epithelium:	n/a	n/a
3	HEY1	chr12:48177054-48177258	K562	blood:	n/a	n/a
4	POLR2A	chr12:48168539-48189348	K562	blood:	n/a	n/a
5	POLR2A	chr12:48177015-48178615	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr12:48174566-48182409	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:48174647-48178121	K562	blood:	n/a	n/a
8	MAZ	chr12:48177123-48177183	K562	blood:	n/a	n/a
9	POLR2A	chr12:48177027-48177179	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:48174499-48178629	K562	blood:	n/a	n/a
11	POLR2A	chr12:48174596-48179981	K562	blood:	n/a	n/a
12	POLR2A	chr12:48174592-48181015	K562	blood:	n/a	n/a
13	POLR2A	chr12:48174588-48177966	K562	blood:	n/a	n/a
14	POLR2A	chr12:48174624-48178557	K562	blood:	n/a	n/a
15	POLR2A	chr12:48174676-48178288	A549	lung:	n/a	n/a
16	POLR2A	chr12:48174490-48178696	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr12:48174562-48178245	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr12:48177096-48177216	K562	blood:	n/a	n/a
19	POLR2A	chr12:48174465-48181100	K562	blood:	n/a	n/a
20	CCNT2	chr12:48177025-48177527	K562	blood:	n/a	n/a
21	POLR2A	chr12:48174512-48177433	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:48174642-48178463	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:75329270..75329903-chr12:48176777..48177335,2	NB4	blood:
2	chr12:48175695..48177408-chr12:48190225..48192647,2	K562	blood:
3	chr12:48164603..48170216-chr12:48170812..48178110,12	MCF-7	breast:
4	chr12:48175648..48178866-chr12:48181283..48184772,5	MCF-7	breast:
5	chr12:48176725..48178641-chr12:48179126..48180655,2	K562	blood:
6	chr12:48173236..48178017-chr12:48212091..48216621,8	MCF-7	breast:
7	chr12:48176329..48178651-chr12:48234485..48237249,2	K562	blood:
8	chr12:48176978..48178764-chr12:48224362..48226122,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268069	TF binding region
ENSG00000257488	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2239190	0.85[EUR][1000 genomes]
rs3782908	0.99[ASN][1000 genomes]
rs4760653	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397585	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7399189	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48168000-48177200	Weak transcription	Small Intestine	intestine
2	chr12:48168200-48195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:48168600-48178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:48169000-48177600	Weak transcription	Dnd41	blood
5	chr12:48169200-48177600	Weak transcription	Fetal Lung	lung
6	chr12:48169200-48178600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:48169400-48179200	Weak transcription	Fetal Kidney	kidney
8	chr12:48169800-48181200	Weak transcription	GM12878-XiMat	blood
9	chr12:48170600-48181200	Weak transcription	HepG2	liver
10	chr12:48172200-48177600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:48172400-48177400	Weak transcription	HSMMtube	muscle
12	chr12:48173000-48192400	Weak transcription	Right Atrium	heart
13	chr12:48173200-48177600	Genic enhancers	Brain Substantia Nigra	brain
14	chr12:48173200-48177800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:48173200-48180400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:48173200-48191200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:48173400-48178000	Genic enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:48173400-48180400	Strong transcription	Fetal Intestine Small	intestine
19	chr12:48173600-48177200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:48173600-48178600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:48173600-48180400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:48173600-48187600	Weak transcription	Fetal Heart	heart
23	chr12:48173800-48178000	Genic enhancers	Brain Hippocampus Middle	brain
24	chr12:48173800-48178200	Genic enhancers	Brain Cingulate Gyrus	brain
25	chr12:48173800-48178400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:48173800-48193800	Strong transcription	Gastric	stomach
27	chr12:48173800-48195400	Strong transcription	Fetal Stomach	stomach
28	chr12:48174000-48193000	Strong transcription	Placenta	Placenta
29	chr12:48174200-48177400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:48174600-48191600	Strong transcription	Thymus	Thymus
31	chr12:48174600-48192200	Strong transcription	Lung	lung
32	chr12:48174600-48192600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:48174600-48193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:48174600-48193400	Strong transcription	Brain Germinal Matrix	brain
35	chr12:48174600-48195600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:48174800-48178200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:48174800-48179200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:48174800-48179400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:48174800-48180200	Strong transcription	Pancreas	Pancrea
40	chr12:48174800-48181800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:48174800-48184800	Strong transcription	Spleen	Spleen
42	chr12:48174800-48191400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:48174800-48192000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:48174800-48192000	Strong transcription	Ovary	ovary
45	chr12:48174800-48192400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:48174800-48192800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:48174800-48194600	Strong transcription	Fetal Intestine Large	intestine
48	chr12:48175000-48177200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:48175000-48177800	Genic enhancers	NHEK	skin
50	chr12:48175000-48180600	Strong transcription	Duodenum Mucosa	Duodenum

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