Variant report

Variant	rs551510415
Chromosome Location	chr12:26123483-26123484
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	FOS	chr12:26123045-26123591	HUVEC	blood vessel:	n/a	n/a
2	JUN	chr12:26122990-26123487	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:26122456-26123791	HUVEC	blood vessel:	n/a	n/a
4	PBX3	chr12:26122932-26123548	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:26123467-26123573	HUVEC	blood vessel:	n/a	n/a
6	GATA2	chr12:26123005-26123766	HUVEC	blood vessel:	n/a	chr12:26123285-26123295

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26110508..26112354-chr12:26121125..26124045,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8	TF binding region
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:26113400-26128800	Weak transcription	HSMM	muscle
6	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:26114200-26125600	Weak transcription	HMEC	breast
10	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
11	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
12	chr12:26116600-26124600	Weak transcription	NHLF	lung
13	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:26117200-26124000	Weak transcription	Fetal Stomach	stomach
15	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
16	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
18	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:26119600-26124400	Enhancers	Brain Hippocampus Middle	brain
20	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:26119800-26124400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:26120000-26124000	Enhancers	Colon Smooth Muscle	Colon
23	chr12:26120000-26125000	Enhancers	Brain Anterior Caudate	brain
24	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:26120200-26124600	Enhancers	Brain Substantia Nigra	brain
26	chr12:26120600-26125000	Enhancers	Ovary	ovary
27	chr12:26120600-26125000	Enhancers	Psoas Muscle	Psoas
28	chr12:26120800-26123600	Weak transcription	Right Ventricle	heart
29	chr12:26120800-26123800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:26121200-26123600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:26121200-26124000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:26121200-26126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:26121600-26124800	Enhancers	HUVEC	blood vessel
36	chr12:26121800-26123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:26121800-26123800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:26121800-26124400	Enhancers	Lung	lung
39	chr12:26121800-26125000	Enhancers	Right Atrium	heart
40	chr12:26122000-26123600	Enhancers	NHDF-Ad	bronchial
41	chr12:26122000-26125000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:26122200-26123600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:26122200-26123600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:26122200-26123600	Weak transcription	Pancreas	Pancrea
45	chr12:26122200-26125000	Enhancers	NH-A	brain
46	chr12:26122200-26126200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:26122400-26123600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:26122400-26124000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:26122400-26124400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:26122400-26124400	Enhancers	Duodenum Smooth Muscle	Duodenum

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