Variant report

Variant	rs549585150
Chromosome Location	chr12:120428256-120428257
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120427745..120429727-chr12:120729725..120731576,2	MCF-7	breast:
2	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
3	chr12:120426620..120429059-chr12:120727400..120730169,3	MCF-7	breast:
4	chr12:120427086..120431307-chr12:120435070..120439124,5	MCF-7	breast:
5	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
6	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3421380	chr12:120424669-120428967	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv3424419	chr12:120426069-120428817	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3327583	chr12:120426194-120428742	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1801020	chr12:120426469-120428468	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1833694	chr12:120426469-120428468	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1836343	chr12:120426469-120428468	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv560408	chr12:120426469-120428468	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv1844134	chr12:120426469-120441443	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1845761	chr12:120426469-120441443	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv3421881	chr12:120426594-120429142	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	esv1850441	chr12:120426820-120428468	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv560424	chr12:120426820-120428468	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120426200-120428400	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:120426200-120428600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:120426200-120429400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:120426400-120428400	Active TSS	Fetal Kidney	kidney
5	chr12:120426400-120429000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:120426400-120429000	Active TSS	Esophagus	oesophagus
7	chr12:120426800-120428400	Active TSS	Lung	lung
8	chr12:120427600-120428400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:120427800-120428400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:120427800-120428400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120427800-120428400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr12:120427800-120428400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr12:120427800-120428400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr12:120427800-120428400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
15	chr12:120427800-120428400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr12:120427800-120428600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:120427800-120428600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:120427800-120428600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr12:120427800-120428600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:120427800-120428600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:120427800-120428600	Flanking Active TSS	HMEC	breast
22	chr12:120427800-120428800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:120427800-120428800	Flanking Active TSS	Thymus	Thymus
24	chr12:120427800-120428800	Flanking Active TSS	NHEK	skin
25	chr12:120427800-120429400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr12:120427800-120431000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:120428000-120428400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:120428000-120428400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:120428000-120428400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr12:120428000-120428400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr12:120428000-120428400	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr12:120428000-120428400	Bivalent Enhancer	Fetal Lung	lung
37	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr12:120428000-120428400	Flanking Active TSS	Gastric	stomach
40	chr12:120428000-120428400	Enhancers	Ovary	ovary
41	chr12:120428000-120428400	Enhancers	Right Ventricle	heart
42	chr12:120428000-120428400	Active TSS	Stomach Mucosa	stomach
43	chr12:120428000-120428400	Enhancers	Spleen	Spleen
44	chr12:120428000-120428400	Flanking Bivalent TSS/Enh	A549	lung
45	chr12:120428000-120428400	Flanking Active TSS	HSMMtube	muscle
46	chr12:120428000-120428400	Bivalent Enhancer	NHLF	lung
47	chr12:120428000-120428600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr12:120428000-120428600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:120428000-120428600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:120428000-120428600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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