Variant report

Variant	rs540678210
Chromosome Location	chr12:568430-568431
allele	C/T
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	GATA2	chr12:568215-568946	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr12:568267-568647	T-47D	breast:	n/a	chr12:568476-568484
3	CEBPB	chr12:568253-568483	HepG2	liver:	n/a	n/a
4	GATA2	chr12:568286-568865	HUVEC	blood vessel:	n/a	n/a
5	CEBPB	chr12:568205-568608	MCF-7	breast:	n/a	n/a
6	MAX	chr12:568343-569415	HCT-116	colon:	n/a	chr12:568932-568942
7	GATA3	chr12:568243-568803	T-47D	breast:	n/a	chr12:568476-568484
8	CEBPB	chr12:568214-568497	A549	lung:	n/a	n/a
9	CEBPB	chr12:568214-568554	H1-hESC	embryonic stem cell:	n/a	n/a
10	SETDB1	chr12:568187-568986	U2OS	brain:	n/a	n/a
11	E2F6	chr12:568342-569224	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr12:568248-568621	MCF-7	breast:	n/a	chr12:568476-568484
13	GATA3	chr12:568250-568434	MCF-7	breast:	n/a	n/a
14	KAP1	chr12:568243-568989	U2OS	brain:	n/a	n/a
15	CEBPB	chr12:568275-568467	K562	blood:	n/a	n/a
16	CEBPB	chr12:568309-568542	HepG2	liver:	n/a	n/a
17	GATA3	chr12:568139-568993	MCF-7	breast:	n/a	chr12:568182-568195 chr12:568476-568484
18	GATA3	chr12:568286-568613	SH-SY5Y	brain:	n/a	chr12:568476-568484

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:567792..568717-chr12:633148..633750,3	MCF-7	breast:
2	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:563200-568600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:563200-568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:563200-568600	Weak transcription	Right Ventricle	heart
4	chr12:565000-568600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:566000-568600	Enhancers	Fetal Heart	heart
6	chr12:566600-568600	Weak transcription	Left Ventricle	heart
7	chr12:567200-568600	Enhancers	Stomach Mucosa	stomach
8	chr12:568000-568600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:568200-568600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:568200-568600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:568200-568600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:568200-568600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:568200-568600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:568200-568600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr12:568200-568600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr12:568200-568600	Bivalent Enhancer	Placenta	Placenta
17	chr12:568200-568600	Enhancers	Gastric	stomach
18	chr12:568200-568800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:568200-569000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:568400-568600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:568400-568600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:568400-568600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:568400-568600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:568400-568600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:568400-568600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:568400-568600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
27	chr12:568400-568600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr12:568400-568600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr12:568400-568600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:568400-568600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:568400-568600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:568400-568600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr12:568400-568600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:568400-568600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:568400-568600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:568400-568600	Enhancers	Liver	Liver
37	chr12:568400-568600	Enhancers	Brain Hippocampus Middle	brain
38	chr12:568400-568600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:568400-568600	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr12:568400-568600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr12:568400-568600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr12:568400-568600	Enhancers	Esophagus	oesophagus
43	chr12:568400-568600	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr12:568400-568600	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr12:568400-568600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr12:568400-568600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr12:568400-568600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr12:568400-568600	Enhancers	Pancreas	Pancrea
49	chr12:568400-568600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr12:568400-568600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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