Variant report

Variant	rs9649213
Chromosome Location	chr7:98021211-98021212
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	chr7:98013767..98016196-chr7:98019830..98022730,2	K562	blood:

Variant related genes	Relation type
ENSG00000214389	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1006169	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs12539761	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs1541409	0.86[CHB][hapmap]
rs2240348	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs3801258	0.84[CHD][hapmap]
rs4236537	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs4729432	0.82[CHB][hapmap]
rs6963518	0.81[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs9640655	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
4	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv888766	chr7:97975542-98123880	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	nsv5860	chr7:97995939-98028100	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1795864	chr7:98013507-98040788	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv607919	chr7:98021211-98124854	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Prostate cancer (gene x gene interaction)	22219177	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9649213	FIS1	cis	parietal	SCAN
rs9649213	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97990400-98028000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:97992000-98029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:97995800-98028200	Weak transcription	Esophagus	oesophagus
4	chr7:98002600-98027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:98003000-98021600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:98003000-98023600	Weak transcription	Hela-S3	cervix
7	chr7:98007400-98028000	Weak transcription	Fetal Stomach	stomach
8	chr7:98013600-98023600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:98014200-98027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:98014600-98027400	Weak transcription	Fetal Intestine Large	intestine
11	chr7:98016800-98024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:98016800-98027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:98017600-98023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:98017600-98027800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:98017800-98028000	Weak transcription	Pancreas	Pancrea
16	chr7:98018000-98023600	Weak transcription	A549	lung
17	chr7:98018000-98027600	Weak transcription	NHEK	skin
18	chr7:98018000-98028000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:98018200-98024200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:98018600-98021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:98018600-98021400	Weak transcription	Stomach Mucosa	stomach
22	chr7:98018600-98023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:98018600-98023800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:98018600-98028000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:98018800-98028000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:98020800-98022000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:98021000-98021600	Enhancers	GM12878-XiMat	blood
28	chr7:98021200-98021400	Enhancers	Fetal Intestine Small	intestine
29	chr7:98021200-98022000	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:98021200-98022200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:98021200-98022200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:98021200-98022200	Enhancers	Liver	Liver
33	chr7:98021200-98022200	Enhancers	HepG2	liver

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