Variant report

Variant	rs1557803
Chromosome Location	chr4:110978498-110978499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110977785..110984731-chr4:111116105..111121044,7	MCF-7	breast:
2	chr4:110972268..110974968-chr4:110975889..110979455,3	K562	blood:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10001138	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs4141123	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];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698806	0.91[ASW][hapmap];0.83[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6837303	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9990430	0.88[EUR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv595145	chr4:110969572-110982248	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1557803	CYP2U1	cis	parietal	SCAN
rs1557803	RRH	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-110981000	Weak transcription	Adipose Nuclei	Adipose
2	chr4:110964600-110981800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:110964800-110982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:110965000-110982000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:110965200-110986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:110966800-110982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:110967600-110980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:110968600-110980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:110971200-110980200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:110971800-110981200	Weak transcription	NHLF	lung
14	chr4:110971800-110981600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:110971800-110992800	Weak transcription	Fetal Stomach	stomach
16	chr4:110972200-110981000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:110972600-110980600	Weak transcription	HUVEC	blood vessel
18	chr4:110972800-110981400	Weak transcription	Gastric	stomach
19	chr4:110973000-110980800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:110973000-110981400	Weak transcription	Esophagus	oesophagus
21	chr4:110973000-110991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:110973200-110979600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:110973200-110979600	Weak transcription	HMEC	breast
25	chr4:110973400-110980400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:110973400-110982200	Weak transcription	K562	blood
27	chr4:110973400-110992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:110974400-110990600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:110974600-110992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:110976000-110981400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:110976200-110981000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:110976800-110980200	Weak transcription	Small Intestine	intestine
33	chr4:110976800-110981200	Weak transcription	Fetal Thymus	thymus
34	chr4:110976800-110981400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:110977000-110979200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:110977000-110979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:110977000-110980600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:110977000-110980600	Weak transcription	Fetal Intestine Small	intestine
39	chr4:110977000-110981200	Weak transcription	Fetal Intestine Large	intestine
40	chr4:110977000-110982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:110977000-110983000	Weak transcription	Brain Angular Gyrus	brain
42	chr4:110977200-110979200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:110977200-110979600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:110977200-110980200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:110977200-110980200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:110977200-110980400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:110977200-110980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:110977200-110980600	Weak transcription	Stomach Mucosa	stomach
49	chr4:110977200-110980600	Weak transcription	NHDF-Ad	bronchial
50	chr4:110977200-110980800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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