Variant report

Variant	rs17357139
Chromosome Location	chr4:84778595-84778596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:84774360..84776816-chr4:84777567..84780524,2	K562	blood:
2	chr4:84776348..84779018-chr4:84780944..84782623,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11737800	0.87[EUR][1000 genomes]
rs17356992	0.87[EUR][1000 genomes]
rs35416753	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6821323	0.84[ASN][1000 genomes]
rs6821697	0.87[EUR][1000 genomes]
rs6845813	0.84[ASN][1000 genomes]
rs7681626	0.82[ASN][1000 genomes]
rs9307830	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1010009	chr4:84469896-84882528	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv879513	chr4:84612373-84905452	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17357139	FAM175A	cis	parietal	SCAN
rs17357139	C7orf13	trans	cerebellum	SCAN
rs17357139	NKX6-1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84773400-84779800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:84776600-84781200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:84776600-84785800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:84776800-84780000	Enhancers	A549	lung
5	chr4:84776800-84781000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:84777000-84779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:84777000-84781600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:84777000-84781600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:84777000-84786600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:84777200-84778800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:84777200-84779200	Weak transcription	NH-A	brain
12	chr4:84777400-84781400	Weak transcription	HSMM	muscle
13	chr4:84777600-84780000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:84777800-84779000	Weak transcription	Osteobl	bone
15	chr4:84778000-84778600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:84778000-84779200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:84778000-84779400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:84778000-84779400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:84778000-84779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:84778200-84778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:84778200-84779200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:84778200-84783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:84778400-84779400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:84778400-84787800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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