Variant report

Variant	rs2257914
Chromosome Location	chr6:30120563-30120564
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30119391..30121135-chr6:30321285..30322810,2	K562	blood:
2	chr6:30116433..30118357-chr6:30119200..30121836,2	MCF-7	breast:
3	chr6:30092394..30094578-chr6:30120446..30121954,2	MCF-7	breast:
4	chr6:30119883..30121941-chr6:30128397..30130915,2	MCF-7	breast:
5	chr6:30027349..30029645-chr6:30119880..30121470,2	MCF-7	breast:
6	chr6:30120236..30122567-chr6:30123683..30125574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066379	Chromatin interaction
ENSG00000204623	Chromatin interaction
ENSG00000204613	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1123966	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1419675	0.81[AFR][1000 genomes]
rs1967	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2021723	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2021731	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107195	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2107202	0.80[AFR][1000 genomes]
rs2244066	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517591	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2517593	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2523733	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2523734	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2523974	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844784	0.80[AFR][1000 genomes]
rs2844798	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2257914	ZKSCAN4	cis	cerebellum	SCAN
rs2257914	HIST1H4F	cis	cerebellum	SCAN
rs2257914	HIST1H2BN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30112800-30120800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:30116000-30121800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30117200-30122000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:30117800-30121600	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:30118000-30120600	Enhancers	K562	blood
6	chr6:30118400-30122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:30118600-30121400	Enhancers	Fetal Intestine Small	intestine
8	chr6:30118600-30125000	Enhancers	Fetal Intestine Large	intestine
9	chr6:30118800-30121800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:30119200-30121000	Weak transcription	Placenta	Placenta
11	chr6:30119200-30122400	Weak transcription	HSMM	muscle
12	chr6:30119400-30121800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:30119600-30121000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:30119600-30122000	Weak transcription	Osteobl	bone
15	chr6:30119600-30122400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:30119600-30124000	Weak transcription	Right Atrium	heart
17	chr6:30119800-30121000	Weak transcription	Small Intestine	intestine
18	chr6:30119800-30121000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:30119800-30121800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:30119800-30122000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:30119800-30122400	Enhancers	HepG2	liver
22	chr6:30120000-30121800	Weak transcription	Colonic Mucosa	Colon
23	chr6:30120200-30122200	Enhancers	Duodenum Mucosa	Duodenum

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