Variant report

Variant	rs551811054
Chromosome Location	chr12:569312-569313
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:568493-569442	ECC-1	luminal epithelium:	n/a	chr12:568932-568942
2	EGR1	chr12:568558-569445	ECC-1	luminal epithelium:	n/a	chr12:569343-569352 chr12:568929-568942
3	SIN3A	chr12:568822-569377	H1-hESC	embryonic stem cell:	n/a	chr12:569335-569346
4	MAX	chr12:568343-569415	HCT-116	colon:	n/a	chr12:568932-568942
5	POLR2A	chr12:569045-569412	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr12:568715-569350	HCT-116	colon:	n/a	n/a
7	POLR2A	chr12:569144-569337	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:569119-569315	HepG2	liver:	n/a	n/a
9	MAX	chr12:569087-570169	HepG2	liver:	n/a	chr12:569928-569938 chr12:569929-569939 chr12:569928-569939 chr12:569928-569939 chr12:569929-569938 chr12:569870-569880 chr12:569929-569938 chr12:569929-569938
10	POLR2A	chr12:568736-569436	PFSK-1	brain:	n/a	n/a
11	EGR1	chr12:568614-569455	HCT-116	colon:	n/a	chr12:569343-569352 chr12:568929-568942
12	POLR2A	chr12:568887-569677	HEK293	kidney:	n/a	n/a
13	MAX	chr12:568464-570097	ECC-1	luminal epithelium:	n/a	chr12:569928-569938 chr12:569929-569939 chr12:569928-569939 chr12:569928-569939 chr12:569929-569938 chr12:569870-569880 chr12:569929-569938 chr12:568932-568942 chr12:569929-569938
14	POLR2A	chr12:569080-569697	ECC-1	luminal epithelium:	n/a	n/a
15	ZBTB7A	chr12:569197-569437	K562	blood:	n/a	n/a
16	EGR1	chr12:568837-569452	ECC-1	luminal epithelium:	n/a	chr12:569343-569352 chr12:568929-568942
17	POLR2A	chr12:568958-569399	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr12:568555-570184	ECC-1	luminal epithelium:	n/a	chr12:568929-568938
19	POLR2A	chr12:569045-569428	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr12:568436-569478	A549	lung:	n/a	chr12:568932-568942
21	POLR2A	chr12:569091-569345	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr12:568455-570024	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr12:568504-569469	H1-hESC	embryonic stem cell:	n/a	chr12:568932-568942
24	MAZ	chr12:569210-569341	K562	blood:	n/a	n/a
25	POLR2A	chr12:569045-569405	H1-neurons	neurons:	n/a	n/a
26	UBTF	chr12:569126-569427	K562	blood:	n/a	n/a
27	MAZ	chr12:568990-569466	IMR90	lung:	n/a	n/a
28	ZBTB7A	chr12:568666-570181	ECC-1	luminal epithelium:	n/a	chr12:568929-568938
29	POLR2A	chr12:569190-569383	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:568804-569398	HCT-116	colon:	n/a	n/a
31	TAF1	chr12:568689-569477	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:563329..565508-chr12:567009..569483,2	MCF-7	breast:

Variant related genes	Relation type
B4GALNT3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541304	chr12:282465-635505	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1042991	chr12:282465-666255	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
15	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
16	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
17	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
18	nsv1050646	chr12:362398-658665	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv541326	chr12:362398-658665	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
21	nsv1050226	chr12:441032-743195	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
22	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
23	nsv949226	chr12:493900-814882	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	nsv898566	chr12:499041-570917	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1036822	chr12:504573-586674	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv541329	chr12:504573-586674	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv1048923	chr12:527728-658665	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv541330	chr12:527728-658665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
29	nsv898567	chr12:547683-863517	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
30	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
31	nsv430441	chr12:551550-628236	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv1046514	chr12:554091-633417	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	esv3447018	chr12:568191-570739	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:568400-570200	Bivalent/Poised TSS	A549	lung
2	chr12:568400-570400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:568400-570400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:568400-570600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:568400-570800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:568400-570800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr12:568400-570800	Active TSS	Right Atrium	heart
8	chr12:568400-571200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:568600-570200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:568600-570400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:568600-570400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:568600-570400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr12:568600-570400	Enhancers	Spleen	Spleen
14	chr12:568600-570600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:568600-570600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:568600-570600	Active TSS	Aorta	Aorta
17	chr12:568800-569400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:568800-569800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:568800-569800	Active TSS	Right Ventricle	heart
20	chr12:568800-570000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:568800-570200	Active TSS	Brain Angular Gyrus	brain
22	chr12:568800-570200	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:568800-570400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:568800-570400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:568800-570400	Active TSS	Brain Anterior Caudate	brain
26	chr12:568800-570600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr12:568800-570600	Bivalent/Poised TSS	Small Intestine	intestine
28	chr12:568800-571400	Active TSS	Gastric	stomach
29	chr12:569000-569400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:569000-569400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:569000-569400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:569000-569400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:569000-569400	Active TSS	K562	blood
34	chr12:569000-569400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
35	chr12:569000-569600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:569000-569600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
37	chr12:569000-569600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:569000-569600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
39	chr12:569000-569600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:569000-569600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:569000-569600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:569000-569600	Active TSS	Adipose Nuclei	Adipose
43	chr12:569000-569600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr12:569000-569600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr12:569000-569600	Bivalent/Poised TSS	Fetal Thymus	thymus
46	chr12:569000-569600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
47	chr12:569000-569600	Active TSS	Stomach Smooth Muscle	stomach
48	chr12:569000-569600	Active TSS	HMEC	breast
49	chr12:569000-569800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:569000-569800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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