Variant report

Variant	rs2132764
Chromosome Location	chr4:77928465-77928466
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	JUN	chr4:77928173-77929418	HUVEC	blood vessel:	n/a	chr4:77928771-77928779 chr4:77928438-77928449
2	PBX3	chr4:77927984-77928910	SK-N-SH	brain:	n/a	chr4:77928623-77928632
3	PBX3	chr4:77928023-77928905	SK-N-SH	brain:	n/a	chr4:77928623-77928632
4	POLR2A	chr4:77928324-77928534	ProgFib	skin:	n/a	n/a
5	POLR2A	chr4:77928318-77928806	HUVEC	blood vessel:	n/a	n/a
6	ZNF143	chr4:77928215-77928670	H1-hESC	embryonic stem cell:	n/a	chr4:77928353-77928368 chr4:77928352-77928371
7	ZNF143	chr4:77928396-77928666	GM12878	blood:	n/a	n/a
8	SPI1	chr4:77928446-77929172	GM12878	blood:	n/a	chr4:77928812-77928825 chr4:77928816-77928823
9	POLR2A	chr4:77928048-77929689	HUVEC	blood vessel:	n/a	n/a
10	TCF12	chr4:77927978-77929017	SK-N-SH	brain:	n/a	n/a
11	FOS	chr4:77928298-77929573	HUVEC	blood vessel:	n/a	chr4:77928771-77928779 chr4:77928438-77928449 chr4:77928769-77928780
12	EP300	chr4:77928109-77928467	SK-N-SH_RA	brain:	n/a	n/a
13	SIN3A	chr4:77928426-77928806	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:77928213-77931388	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr4:77928321-77929711	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77927278..77929882-chr4:77994824..77997804,2	MCF-7	breast:
2	chr4:77888598..77890964-chr4:77928304..77930541,2	K562	blood:

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10518162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509258	0.81[EUR][1000 genomes]
rs17002297	0.88[CEU][hapmap];0.85[CHD][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs35013553	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4150063	1.00[LWK][hapmap]
rs4241597	0.88[CEU][hapmap];0.82[CHD][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes]
rs4859730	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58596754	0.81[EUR][1000 genomes]
rs6826681	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs987995	1.00[LWK][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2132764	FRAS1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77903600-77936000	Weak transcription	Esophagus	oesophagus
2	chr4:77915600-77936800	Weak transcription	Brain Substantia Nigra	brain
3	chr4:77918400-77937400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:77919800-77928600	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:77920000-77932200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:77920200-77940200	Weak transcription	Spleen	Spleen
7	chr4:77920400-77936000	Weak transcription	Gastric	stomach
8	chr4:77920400-77936200	Weak transcription	Colonic Mucosa	Colon
9	chr4:77921800-77931200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:77923400-77932200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:77924600-77930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:77924600-77936000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:77924600-77937000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:77924600-77940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:77924800-77941000	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:77925000-77940200	Weak transcription	Fetal Brain Male	brain
17	chr4:77926400-77934400	Genic enhancers	NHLF	lung
18	chr4:77926800-77928800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:77926800-77929000	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr4:77926800-77930200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:77926800-77931000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:77926800-77933000	Genic enhancers	HSMM	muscle
23	chr4:77927000-77928800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:77927000-77930800	Genic enhancers	Osteobl	bone
25	chr4:77927000-77931200	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:77927000-77931400	Genic enhancers	HSMMtube	muscle
27	chr4:77927200-77929200	Strong transcription	HepG2	liver
28	chr4:77927200-77930000	Genic enhancers	NH-A	brain
29	chr4:77927200-77937600	Genic enhancers	NHDF-Ad	bronchial
30	chr4:77927400-77929400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:77927400-77929600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:77927400-77930200	Strong transcription	K562	blood
33	chr4:77927400-77930400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:77927600-77928800	Enhancers	Fetal Heart	heart
35	chr4:77927600-77929000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:77927600-77929800	Enhancers	Brain Anterior Caudate	brain
37	chr4:77927600-77929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:77927600-77931000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:77927600-77931400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:77927800-77928600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:77927800-77928800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:77927800-77929200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:77927800-77929600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:77927800-77929600	Enhancers	Fetal Lung	lung
45	chr4:77927800-77929800	Flanking Active TSS	HUVEC	blood vessel
46	chr4:77927800-77930400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:77927800-77932800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:77928000-77928600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:77928000-77928600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:77928000-77928600	Enhancers	Brain Angular Gyrus	brain

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