Variant report

Variant	rs4667661
Chromosome Location	chr2:171697564-171697565
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	ELF1	chr2:171697354-171697629	K562	blood:	n/a	n/a
2	RCOR1	chr2:171697436-171697599	K562	blood:	n/a	n/a
3	MAFK	chr2:171697358-171697651	K562	blood:	n/a	n/a
4	STAT3	chr2:171697296-171697719	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:171697335-171697591	MCF10A-Er-Src	breast:	n/a	chr2:171697505-171697515 chr2:171697505-171697515 chr2:171697506-171697514 chr2:171697504-171697516
6	MAFF	chr2:171697388-171697668	K562	blood:	n/a	n/a
7	STAT3	chr2:171697340-171697634	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr2:171697386-171697629	K562	blood:	n/a	chr2:171697505-171697515 chr2:171697505-171697515 chr2:171697506-171697514 chr2:171697504-171697516
9	FOS	chr2:171697407-171697607	MCF10A-Er-Src	breast:	n/a	chr2:171697505-171697515 chr2:171697505-171697515 chr2:171697506-171697514 chr2:171697504-171697516
10	SPI1	chr2:171697382-171697612	K562	blood:	n/a	n/a
11	POLR2A	chr2:171697535-171697641	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171697307..171700092-chr2:171707873..171709745,2	MCF-7	breast:
2	chr2:171696976..171698746-chr2:171701808..171703928,2	K562	blood:
3	chr2:171697045..171698623-chr2:171704193..171706340,2	K562	blood:
4	chr2:171691809..171693966-chr2:171696924..171699265,3	K562	blood:
5	chr2:171694914..171696782-chr2:171697329..171699525,2	MCF-7	breast:
6	chr2:171691809..171693950-chr2:171697494..171699703,4	K562	blood:
7	chr2:171676163..171679127-chr2:171696611..171698431,2	K562	blood:

Variant related genes	Relation type
GAD1	TF binding region
ENSG00000128683	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17700773	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17751683	0.81[AMR][1000 genomes]
rs2160414	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41393845	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45465192	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45467694	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45471500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45473292	0.81[AMR][1000 genomes]
rs45486908	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45506192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45626540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4667659	0.87[EUR][1000 genomes]
rs4668322	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4668328	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4668329	0.89[EUR][1000 genomes]
rs4668330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs701491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171685800-171699000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:171686400-171699200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:171687800-171712600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:171688800-171719000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:171689800-171705400	Weak transcription	Aorta	Aorta
6	chr2:171690000-171715000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:171690200-171698800	Weak transcription	NHEK	skin
8	chr2:171690600-171700400	Weak transcription	Hela-S3	cervix
9	chr2:171693800-171698800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:171693800-171706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:171694200-171698600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:171694800-171699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:171696400-171697800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:171696800-171699000	Strong transcription	Brain Germinal Matrix	brain
15	chr2:171696800-171699200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:171697000-171704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:171697200-171698200	Weak transcription	HSMM	muscle
18	chr2:171697200-171718400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:171697400-171697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:171697400-171697600	Enhancers	NH-A	brain
21	chr2:171697400-171697800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:171697400-171697800	Enhancers	K562	blood
23	chr2:171697400-171699200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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