Variant report

Variant	rs9632689
Chromosome Location	chr7:102389124-102389125
allele	C/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	MAFK	chr7:102389037-102389501	Hela-S3	cervix:	n/a	n/a
2	ETS1	chr7:102388980-102389666	A549	lung:	n/a	n/a
3	BRCA1	chr7:102389094-102389528	Hela-S3	cervix:	n/a	n/a
4	WRNIP1	chr7:102389028-102389371	GM12878	blood:	n/a	n/a
5	SP2	chr7:102389101-102389379	K562	blood:	n/a	chr7:102389234-102389249 chr7:102389211-102389221
6	BHLHE40	chr7:102388971-102389373	HepG2	liver:	n/a	n/a
7	MXI1	chr7:102388935-102389666	Hela-S3	cervix:	n/a	n/a
8	MAX	chr7:102388938-102389439	ECC-1	luminal epithelium:	n/a	n/a
9	E2F6	chr7:102389067-102389425	K562	blood:	n/a	n/a
10	USF2	chr7:102389036-102389395	GM12878	blood:	n/a	n/a
11	SP1	chr7:102388974-102389781	HepG2	liver:	n/a	chr7:102389202-102389223
12	NR2F2	chr7:102388675-102389905	K562	blood:	n/a	chr7:102389302-102389317
13	SIX5	chr7:102389124-102389523	K562	blood:	n/a	chr7:102389339-102389353
14	ATF1	chr7:102389031-102389497	K562	blood:	n/a	n/a
15	IRF1	chr7:102389074-102389520	K562	blood:	n/a	chr7:102389250-102389259
16	SP1	chr7:102388858-102389598	HCT-116	colon:	n/a	chr7:102389202-102389223
17	E2F6	chr7:102388944-102389471	H1-hESC	embryonic stem cell:	n/a	n/a
18	ETS1	chr7:102389037-102389876	K562	blood:	n/a	n/a
19	SP1	chr7:102388930-102390034	GM12878	blood:	n/a	chr7:102389202-102389223
20	GTF2F1	chr7:102389069-102389522	Hela-S3	cervix:	n/a	n/a
21	MAX	chr7:102388973-102389635	GM12878	blood:	n/a	n/a
22	EGR1	chr7:102389068-102389548	K562	blood:	n/a	chr7:102389328-102389352
23	POLR2A	chr7:102389089-102389934	K562	blood:	n/a	n/a
24	TBP	chr7:102389105-102389531	GM12878	blood:	n/a	n/a
25	ZNF143	chr7:102388986-102389672	GM12878	blood:	n/a	chr7:102389381-102389399 chr7:102389333-102389351 chr7:102389328-102389347
26	ELF1	chr7:102388960-102389511	GM12878	blood:	n/a	n/a
27	MAFF	chr7:102389032-102389222	K562	blood:	n/a	n/a
28	CREB1	chr7:102389070-102389450	A549	lung:	n/a	n/a
29	RCOR1	chr7:102389084-102389542	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr7:102388939-102389857	PANC-1	pancreas:	n/a	n/a
31	ZNF143	chr7:102388994-102389630	K562	blood:	n/a	chr7:102389381-102389399 chr7:102389333-102389351 chr7:102389328-102389347
32	CREB1	chr7:102389054-102389582	A549	lung:	n/a	n/a
33	NFIC	chr7:102388993-102389780	GM12878	blood:	n/a	n/a
34	PML	chr7:102388964-102389639	GM12878	blood:	n/a	n/a
35	SP1	chr7:102388931-102389569	H1-hESC	embryonic stem cell:	n/a	chr7:102389202-102389223
36	CEBPB	chr7:102388891-102389638	K562	blood:	n/a	n/a
37	IRF1	chr7:102389093-102389510	K562	blood:	n/a	chr7:102389250-102389259
38	POLR2A	chr7:102389016-102389804	PANC-1	pancreas:	n/a	n/a
39	BHLHE40	chr7:102388916-102389522	GM12878	blood:	n/a	n/a
40	MXI1	chr7:102388824-102389902	IMR90	lung:	n/a	n/a
41	NRF1	chr7:102388919-102389676	SK-N-SH	brain:	n/a	n/a
42	MAX	chr7:102388955-102389577	SK-N-SH	brain:	n/a	n/a
43	STAT3	chr7:102389046-102389417	MCF10A-Er-Src	breast:	n/a	n/a
44	BHLHE40	chr7:102388963-102389550	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:102389021-102389674	K562	blood:	n/a	n/a
46	SP1	chr7:102389046-102389631	K562	blood:	n/a	chr7:102389202-102389223
47	CREB1	chr7:102389091-102389440	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr7:102389031-102389753	K562	blood:	n/a	n/a
49	ELF1	chr7:102388978-102389535	GM12878	blood:	n/a	n/a
50	MAZ	chr7:102389046-102389661	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
2	chr7:76751236..76751872-chr7:102389110..102389768,2	MCF-7	breast:
3	chr7:102389047..102390959-chr7:102788572..102791008,2	K562	blood:
4	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:

Variant related genes	Relation type
FAM185A	TF binding region
ENSG00000161048	Chromatin interaction
ENSG00000135205	Chromatin interaction
ENSG00000214439	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10349391	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11760934	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1968148	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2109990	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2537466	0.92[EUR][1000 genomes]
rs2537480	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2539336	0.91[EUR][1000 genomes]
rs2539363	0.94[EUR][1000 genomes]
rs3095391	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5016508	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59458922	0.81[AMR][1000 genomes]
rs6959462	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7794716	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9690473	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv888845	chr7:102113909-102398479	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv471337	chr7:102114386-102418049	Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv471505	chr7:102114386-102418049	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv471534	chr7:102114386-102418049	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv471535	chr7:102114386-102418049	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv471540	chr7:102114386-102418049	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1016419	chr7:102238120-102405421	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv1029058	chr7:102238120-102406735	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv1031471	chr7:102238120-102429404	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1034146	chr7:102288510-102402610	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv1034233	chr7:102288510-102418702	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1033548	chr7:102316707-102402610	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	nsv888922	chr7:102322456-102398479	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	nsv966870	chr7:102332269-102395247	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv1028732	chr7:102345949-102394073	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	nsv1023265	chr7:102347032-102406735	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	nsv1027415	chr7:102351847-102394073	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
27	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9632689	RASA4DP	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102388600-102389200	Flanking Active TSS	Brain Anterior Caudate	brain
2	chr7:102388600-102389200	Flanking Active TSS	Dnd41	blood
3	chr7:102388600-102389200	Flanking Active TSS	K562	blood
4	chr7:102388600-102390200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:102388600-102390200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:102388600-102390400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:102388600-102390400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:102388600-102390600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:102388600-102390600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:102388600-102390600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:102388600-102390600	Active TSS	A549	lung
12	chr7:102388600-102390800	Active TSS	Brain Hippocampus Middle	brain
13	chr7:102388600-102391000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:102388800-102389200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:102388800-102389200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr7:102388800-102389200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:102388800-102389200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr7:102388800-102389200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr7:102388800-102389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:102388800-102389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:102388800-102389200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:102388800-102389200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr7:102388800-102389200	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr7:102388800-102389200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr7:102388800-102389200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:102388800-102389200	Flanking Active TSS	Fetal Brain Male	brain
27	chr7:102388800-102389200	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr7:102388800-102389200	Flanking Active TSS	Fetal Stomach	stomach
29	chr7:102388800-102389200	Enhancers	Pancreas	Pancrea
30	chr7:102388800-102389200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:102388800-102389200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:102388800-102389200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:102388800-102389200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr7:102388800-102389200	Enhancers	Spleen	Spleen
35	chr7:102388800-102389200	Flanking Active TSS	GM12878-XiMat	blood
36	chr7:102388800-102389200	Flanking Active TSS	HMEC	breast
37	chr7:102388800-102389200	Flanking Active TSS	NHDF-Ad	bronchial
38	chr7:102388800-102389200	Flanking Active TSS	NHEK	skin
39	chr7:102388800-102389200	Flanking Active TSS	NHLF	lung
40	chr7:102388800-102389200	Flanking Active TSS	Osteobl	bone
41	chr7:102388800-102390000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:102388800-102390000	Active TSS	Brain Substantia Nigra	brain
43	chr7:102388800-102390200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:102388800-102390200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:102388800-102390200	Active TSS	Brain Germinal Matrix	brain
46	chr7:102388800-102390200	Active TSS	Colonic Mucosa	Colon
47	chr7:102388800-102390200	Active TSS	Fetal Muscle Leg	muscle
48	chr7:102388800-102390200	Active TSS	Placenta	Placenta
49	chr7:102388800-102390400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:102388800-102390400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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