Variant report

Variant	rs17173612
Chromosome Location	chr7:150503360-150503361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:150502949-150503807	U2OS	brain:	n/a	n/a
2	KAP1	chr7:150503039-150503408	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150488420..150491696-chr7:150501354..150503794,3	MCF-7	breast:
2	chr7:150496700..150499573-chr7:150502068..150503734,3	MCF-7	breast:
3	chr7:150495928..150500354-chr7:150501130..150505366,6	MCF-7	breast:
4	chr7:150499274..150501155-chr7:150501980..150504759,2	K562	blood:

Variant related genes	Relation type
TMEM176B	TF binding region
ENSG00000106565	Chromatin interaction
ENSG00000002933	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10278673	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1108578	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11982695	1.00[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11982701	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12112782	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13223879	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13241565	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2080054	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35792015	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4015632	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4463336	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4624940	0.88[EUR][1000 genomes]
rs4725947	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4725948	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55649631	0.85[EUR][1000 genomes]
rs56077833	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6946548	0.81[ASN][1000 genomes]
rs6956215	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs741065	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7809861	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9691482	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150500600-150503600	Weak transcription	Stomach Mucosa	stomach
2	chr7:150501000-150503600	Strong transcription	Fetal Intestine Large	intestine
3	chr7:150501400-150503400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:150501400-150503400	ZNF genes & repeats	Fetal Stomach	stomach
5	chr7:150501400-150503600	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr7:150502600-150503400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
7	chr7:150502600-150503600	ZNF genes & repeats	Brain Anterior Caudate	brain
8	chr7:150502600-150504200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr7:150502600-150505200	Weak transcription	Colonic Mucosa	Colon
10	chr7:150502800-150503400	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr7:150502800-150503400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
12	chr7:150502800-150503400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr7:150502800-150503600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
14	chr7:150502800-150504200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr7:150502800-150504200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr7:150503000-150503400	ZNF genes & repeats	Liver	Liver
17	chr7:150503000-150503400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr7:150503000-150503400	ZNF genes & repeats	Ovary	ovary
19	chr7:150503000-150503400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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