Variant report

Variant	rs552914942
Chromosome Location	chr12:57111451-57111452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57109223-57113587	K562	blood:	n/a	n/a
2	POLR2A	chr12:57111421-57111451	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:57109373-57115069	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:57109486-57115298	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:57111326-57114042	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:57110765-57111561	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:57109177-57115890	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr12:57109046-57111519	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:57111330-57111485	HCT-116	colon:	n/a	n/a
10	POLR2A	chr12:57109230-57111658	K562	blood:	n/a	n/a
11	HEY1	chr12:57111440-57112682	K562	blood:	n/a	n/a
12	POLR2A	chr12:57110844-57111688	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:57109283-57116293	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:57109094-57117058	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr12:57110944-57111487	A549	lung:	n/a	n/a
16	POLR2A	chr12:57110773-57112301	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:57110871-57111594	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr12:57108026-57111457	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57111363-57112218	GM12891	blood:	n/a	n/a
20	POLR2A	chr12:57109356-57117115	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:57109353-57111565	HL-60	blood:	n/a	n/a
22	RUNX3	chr12:57111285-57111616	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:57110895-57113126	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:57109111-57113222	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:57109422-57111685	K562	blood:	n/a	n/a
26	POLR2A	chr12:57109233-57116354	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57078008..57083064-chr12:57107591..57112002,6	MCF-7	breast:
2	chr12:57025967..57028369-chr12:57109076..57111615,2	K562	blood:
3	chr12:56510526..56513327-chr12:57111291..57113363,2	K562	blood:
4	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
5	chr12:57029529..57031708-chr12:57108822..57111712,2	K562	blood:
6	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000110958	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000139641	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559016	chr12:57095815-57112637	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3378333	chr12:57109685-57113883	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3367526	chr12:57109835-57113733	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv3356085	chr12:57110085-57113583	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv20867	chr12:57110564-57115506	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv2235195	chr12:57111420-57111846	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 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	chr12:57104000-57114600	Weak transcription	Fetal Brain Male	brain
2	chr12:57104600-57112600	Strong transcription	Fetal Intestine Large	intestine
3	chr12:57104600-57115000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:57105000-57111600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:57105200-57112200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:57105800-57112200	Weak transcription	Fetal Heart	heart
7	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:57107800-57112600	Weak transcription	Fetal Kidney	kidney
9	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:57109200-57111600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:57109200-57116200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:57109400-57112000	Strong transcription	Fetal Intestine Small	intestine
14	chr12:57109400-57114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:57109600-57112600	Weak transcription	HUVEC	blood vessel
16	chr12:57109600-57115400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:57109600-57116000	Genic enhancers	Fetal Muscle Leg	muscle
18	chr12:57109600-57117000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr12:57109600-57117000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:57109600-57117800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:57109800-57111800	Genic enhancers	Brain Hippocampus Middle	brain
22	chr12:57109800-57113600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:57109800-57113600	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr12:57109800-57114400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:57109800-57114600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:57109800-57115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:57109800-57117200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:57110000-57112600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:57110000-57112800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:57110200-57112000	Weak transcription	Fetal Lung	lung
31	chr12:57110200-57112600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:57110200-57112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:57110200-57112600	Weak transcription	Esophagus	oesophagus
34	chr12:57110200-57113200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:57110200-57115400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:57110200-57115800	Genic enhancers	Placenta	Placenta
37	chr12:57110200-57116800	Genic enhancers	Fetal Stomach	stomach
38	chr12:57110400-57112000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:57110400-57112600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:57110400-57112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:57110400-57112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:57110400-57112600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:57110400-57112600	Weak transcription	Aorta	Aorta
44	chr12:57110400-57112600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:57110400-57112600	Weak transcription	Stomach Mucosa	stomach
46	chr12:57110400-57112600	Weak transcription	Hela-S3	cervix
47	chr12:57110400-57112600	Weak transcription	HSMMtube	muscle
48	chr12:57110400-57112600	Weak transcription	K562	blood
49	chr12:57110400-57112800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:57110400-57113000	Weak transcription	Gastric	stomach

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