Variant report

Variant	rs3762302
Chromosome Location	chr1:151684262-151684263
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	POLR2A	chr1:151682454-151684726	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151682885..151684895-chr1:151686526..151689556,3	K562	blood:
2	chr1:151676777..151682969-chr1:151683840..151687385,6	K562	blood:
3	chr1:151677595..151679984-chr1:151683063..151685340,3	K562	blood:
4	chr1:151681469..151683266-chr1:151683994..151686437,2	K562	blood:

Variant related genes	Relation type
CELF3	TF binding region
ENSG00000240510	Chromatin interaction
ENSG00000159409	Chromatin interaction

rs_ID	r²[population]
rs1196453	0.86[CHB][hapmap]
rs1196455	0.81[CHB][hapmap]
rs1308149	0.87[YRI][hapmap]
rs1308151	0.83[ASN][1000 genomes]
rs1308153	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1781409	0.90[CHB][hapmap]
rs1781413	0.86[CHB][hapmap]
rs1781417	0.80[CHB][hapmap]
rs2495395	0.81[CHB][hapmap]

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151666000-151685400	Weak transcription	A549	lung
2	chr1:151667000-151687400	Weak transcription	K562	blood
3	chr1:151667800-151686000	Weak transcription	HMEC	breast
4	chr1:151670000-151689800	Weak transcription	Pancreas	Pancrea
5	chr1:151672400-151684800	Weak transcription	Small Intestine	intestine
6	chr1:151673800-151685200	Weak transcription	Fetal Kidney	kidney
7	chr1:151674000-151685400	Weak transcription	Gastric	stomach
8	chr1:151674200-151687400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:151674600-151685200	Weak transcription	Fetal Lung	lung
10	chr1:151674600-151686000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:151674800-151686200	Weak transcription	Esophagus	oesophagus
12	chr1:151679200-151684600	Weak transcription	Colonic Mucosa	Colon
13	chr1:151679400-151684400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:151679600-151684800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:151680200-151685400	Weak transcription	Spleen	Spleen
16	chr1:151680200-151687400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:151680400-151684400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:151680400-151684600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151680800-151686800	Enhancers	Fetal Brain Male	brain
20	chr1:151681600-151684600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:151681800-151684400	Genic enhancers	Fetal Intestine Small	intestine
22	chr1:151682000-151684600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:151682000-151686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:151682200-151684800	Genic enhancers	Fetal Intestine Large	intestine
25	chr1:151683400-151684400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:151683400-151684400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:151683400-151687800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
28	chr1:151683400-151688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:151683600-151684800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:151683600-151686400	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:151683800-151684600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr1:151683800-151686000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:151683800-151687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:151684000-151685200	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:151684000-151687200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
36	chr1:151684200-151684400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr1:151684200-151684800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:151684200-151686000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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