Variant report

Variant	rs2594030
Chromosome Location	chr12:32156042-32156043
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:0)
LncRNA
region (count:1)
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	chr12:32155990-32156500	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:32155281-32156236	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr12:32155270-32156582	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:32155606-32156772	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:32155346-32156105	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:32155758-32156377	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr12:32155557-32156435	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:32155263-32156567	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr12:32155780-32156334	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr12:32155346-32156472	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:32155745-32156233	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr12:32155291-32156516	K562	blood:	n/a	n/a
13	POLR2A	chr12:32156031-32156079	ProgFib	skin:	n/a	n/a
14	POLR2A	chr12:32155819-32156089	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:32155270-32156492	PANC-1	pancreas:	n/a	n/a
16	CHD2	chr12:32155978-32156067	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf35-6	chr12:32155165-32157256	NONHSAT027601

No data

Variant related genes	Relation type
ENSG00000257094	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10771899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844093	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2442065	1.00[YRI][hapmap]
rs2442067	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594029	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2683487	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759301	1.00[CEU][hapmap]
rs4931595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488024	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv521398	chr12:32148915-32156716	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32135000-32156400	Weak transcription	Gastric	stomach
2	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
3	chr12:32140200-32156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:32140800-32156600	Strong transcription	Thymus	Thymus
5	chr12:32141400-32156200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:32143200-32156200	Strong transcription	Primary T cells from cord blood	blood
7	chr12:32143800-32158400	Weak transcription	Fetal Heart	heart
8	chr12:32151000-32156200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:32151200-32158000	Weak transcription	GM12878-XiMat	blood
10	chr12:32151200-32162400	Weak transcription	Fetal Kidney	kidney
11	chr12:32151200-32163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:32151200-32164400	Weak transcription	Brain Anterior Caudate	brain
13	chr12:32151400-32160000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:32151600-32158600	Weak transcription	Right Ventricle	heart
15	chr12:32152400-32158600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:32152400-32162600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:32152600-32156200	Strong transcription	Primary B cells from cord blood	blood
18	chr12:32152600-32156200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:32152800-32156200	Weak transcription	Brain Germinal Matrix	brain
20	chr12:32152800-32158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:32152800-32162000	Weak transcription	Pancreas	Pancrea
22	chr12:32152800-32165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:32152800-32165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:32153000-32156200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:32153000-32156200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:32154000-32156400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:32154000-32163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:32154000-32165400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:32154200-32157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:32154200-32161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:32154200-32161800	Weak transcription	Fetal Stomach	stomach
32	chr12:32154200-32163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:32154200-32165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32154400-32157200	Weak transcription	Dnd41	blood
35	chr12:32154400-32157400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:32154400-32157600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:32154400-32158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:32154400-32158400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:32154400-32159000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:32154400-32163400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:32154400-32165400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:32154400-32177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:32154400-32178400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:32154800-32156400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:32154800-32156400	Weak transcription	Fetal Intestine Large	intestine
46	chr12:32154800-32156400	Weak transcription	Fetal Lung	lung
47	chr12:32154800-32156400	Weak transcription	Spleen	Spleen
48	chr12:32154800-32157400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:32154800-32158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:32154800-32158400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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