Variant report

Variant	rs12082063
Chromosome Location	chr1:95331223-95331224
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	TCF12	chr1:95330824-95331531	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:95330938-95331357	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:95331080-95331230	GM12872	blood:	n/a	n/a
4	GATA3	chr1:95330948-95331404	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr1:95330931-95331383	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr1:95330873-95331474	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr1:95330769-95331533	SK-N-SH	brain:	n/a	n/a
8	MYC	chr1:95331117-95331312	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95320642..95323164-chr1:95331061..95332608,2	K562	blood:
2	chr1:95329686..95331729-chr1:95334435..95337235,2	K562	blood:

Variant related genes	Relation type
SLC44A3	TF binding region
ENSG00000237416	Chromatin interaction

rs_ID	r²[population]
rs11165264	0.85[EUR][1000 genomes]
rs12076356	0.85[EUR][1000 genomes]
rs35405772	0.85[EUR][1000 genomes]

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95326200-95331600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:95326600-95331800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:95326600-95332600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:95327200-95333200	Enhancers	Fetal Stomach	stomach
5	chr1:95327400-95333200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:95327600-95332800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:95327600-95332800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:95327800-95331400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:95327800-95331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:95327800-95332000	Enhancers	Placenta	Placenta
11	chr1:95327800-95332400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:95327800-95333000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:95328000-95331400	Enhancers	Right Atrium	heart
14	chr1:95328000-95333000	Enhancers	Fetal Muscle Leg	muscle
15	chr1:95328000-95333200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:95328200-95332200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:95328200-95332200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:95328200-95332400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:95328400-95332400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:95328400-95333000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:95328600-95331400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:95328600-95332400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:95328600-95333000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:95328800-95332400	Enhancers	Brain Germinal Matrix	brain
25	chr1:95328800-95333000	Enhancers	Fetal Kidney	kidney
26	chr1:95329000-95336000	Weak transcription	Gastric	stomach
27	chr1:95329000-95336200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:95329000-95338200	Weak transcription	Esophagus	oesophagus
29	chr1:95329000-95385000	Weak transcription	Colonic Mucosa	Colon
30	chr1:95329200-95332400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:95329400-95331400	Enhancers	Fetal Brain Male	brain
32	chr1:95329400-95332200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:95329800-95331400	Enhancers	Hela-S3	cervix
34	chr1:95329800-95332800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:95329800-95333000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:95329800-95333200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:95330000-95331600	Enhancers	HUVEC	blood vessel
38	chr1:95330000-95332800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:95330000-95332800	Weak transcription	Small Intestine	intestine
40	chr1:95330000-95333200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:95330000-95344200	Strong transcription	Fetal Intestine Large	intestine
42	chr1:95330200-95332800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:95330400-95332000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:95330400-95332000	Flanking Active TSS	HSMMtube	muscle
45	chr1:95330400-95333000	Enhancers	Aorta	Aorta
46	chr1:95330600-95331400	Enhancers	Fetal Heart	heart
47	chr1:95330600-95331800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:95330600-95332400	Enhancers	Brain Anterior Caudate	brain
49	chr1:95330600-95333000	Enhancers	Brain Hippocampus Middle	brain
50	chr1:95330600-95333000	Enhancers	Colon Smooth Muscle	Colon

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