Variant report

Variant	rs1574509
Chromosome Location	chr1:114630496-114630497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114623682..114625448-chr1:114629138..114631604,2	K562	blood:
2	chr1:114629056..114630964-chr22:38054441..38056208,2	MCF-7	breast:
3	chr1:114619893..114621772-chr1:114628579..114631100,2	K562	blood:
4	chr1:114623233..114626213-chr1:114628057..114630881,2	MCF-7	breast:
5	chr1:114621614..114625641-chr1:114627637..114630642,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241360	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1683253	0.85[JPT][hapmap]
rs17473706	0.85[JPT][hapmap]
rs2432	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2774290	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1574509	CTTNBP2NL	cis	cerebellum	SCAN
rs1574509	SLC16A1	cis	cerebellum	SCAN
rs1574509	TTF2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114624800-114630800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:114625000-114631000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:114625400-114631200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:114625400-114631800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
8	chr1:114625600-114631000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:114625600-114631600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:114626000-114630800	Weak transcription	Fetal Lung	lung
11	chr1:114626400-114630600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:114626400-114630800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:114626400-114630800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:114626400-114630800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:114626400-114631600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:114626600-114630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:114626600-114630800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:114626600-114631000	Weak transcription	HMEC	breast
19	chr1:114629000-114630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:114630000-114631000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:114630000-114632600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:114630400-114631000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:114630400-114631600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea

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