Variant report

Variant	rs800672
Chromosome Location	chr7:99436198-99436199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99432826..99435527-chr7:99436007..99438743,2	K562	blood:
2	chr7:99427440..99433214-chr7:99433946..99436669,7	K562	blood:
3	chr7:99434310..99436769-chr7:99443746..99446718,2	K562	blood:
4	chr7:99434310..99436769-chr7:99443746..99446761,3	K562	blood:
5	chr7:99429881..99432803-chr7:99433485..99436669,5	K562	blood:
6	chr7:99436167..99437949-chr7:99514061..99515612,2	MCF-7	breast:
7	chr7:99123163..99123910-chr7:99435300..99436219,3	MCF-7	breast:
8	chr7:99229171..99229923-chr7:99435691..99436334,2	MCF-7	breast:

No data

Extended variants
information (count: 9 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2572022	0.87[ASW][hapmap]
rs474229	0.87[ASW][hapmap]
rs522415	0.88[CEU][hapmap];0.93[GIH][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs523265	0.84[EUR][1000 genomes]
rs533486	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651430	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs800672	TRIM4	cis	multi-tissue	Pritchard
rs800672	OR2AE1	cis	cerebellum	SCAN
rs800672	TRIM4	cis	normal skin	skin_eQTL
rs800672	TRIM4	cis	parietal	SCAN
rs800672	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs800672	TRIM4	cis	Esophagus Mucosa	GTEx
rs800672	ORAI2	cis	parietal	SCAN
rs800672	CYP3A4	cis	Nerve Tibial	GTEx
rs800672	OR2AE1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:99433800-99465000	Strong transcription	Liver	Liver
3	chr7:99434000-99436400	Enhancers	K562	blood
4	chr7:99435000-99436800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:99435000-99438000	Enhancers	Fetal Intestine Large	intestine
6	chr7:99435200-99436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:99435400-99436200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:99435400-99436600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:99435600-99436600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:99435600-99436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:99435600-99436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:99435600-99436600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:99435600-99436800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:99435600-99441800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:99435800-99436200	Weak transcription	Stomach Mucosa	stomach
16	chr7:99435800-99436200	Enhancers	Dnd41	blood
17	chr7:99435800-99437000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:99435800-99437200	Weak transcription	HMEC	breast
19	chr7:99436000-99437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:99436000-99437000	Weak transcription	Fetal Intestine Small	intestine
21	chr7:99436000-99438400	Weak transcription	GM12878-XiMat	blood
22	chr7:99436000-99438600	Weak transcription	HepG2	liver
23	chr7:99436000-99441000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:99436000-99441000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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