Variant report

Variant	rs803091
Chromosome Location	chr7:101931717-101931718
allele	C/G
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	CTCF	chr7:101931640-101931790	AG04449	skin:	n/a	chr7:101931725-101931738
2	CTCF	chr7:101931600-101931750	GM12878	blood:	n/a	chr7:101931725-101931738
3	CTCF	chr7:101931660-101931810	GM12873	blood:	n/a	chr7:101931725-101931738
4	CTCF	chr7:101931700-101931850	AG09319	gingival:	n/a	chr7:101931725-101931738
5	POLR2A	chr7:101931629-101933375	GM15510	blood:	n/a	n/a
6	SMC3	chr7:101931592-101931887	GM12878	blood:	n/a	n/a
7	CTCF	chr7:101931680-101931830	GM12864	blood:	n/a	chr7:101931725-101931738
8	CTCF	chr7:101931619-101931841	GM10266	blood:	n/a	chr7:101931725-101931738
9	CTCF	chr7:101931664-101931812	GM13977	blood:	n/a	chr7:101931725-101931738
10	CTCF	chr7:101931682-101931801	GM20000	blood:	n/a	chr7:101931725-101931738
11	EBF1	chr7:101931322-101932096	GM12878	blood:	n/a	chr7:101931913-101931923 chr7:101931912-101931925 chr7:101931914-101931923
12	CTCF	chr7:101931660-101931810	AG04449	skin:	n/a	chr7:101931725-101931738
13	CTCF	chr7:101931600-101931750	HRE	kidney:	n/a	chr7:101931725-101931738
14	CTCF	chr7:101931660-101931810	HA-sp	spinal cord:	n/a	chr7:101931725-101931738
15	RUNX3	chr7:101930626-101933732	GM12878	blood:	n/a	n/a
16	CTCF	chr7:101931616-101931834	GM19239	blood:	n/a	chr7:101931725-101931738
17	REST	chr7:101931338-101931791	A549	lung:	n/a	chr7:101931607-101931620
18	CTCF	chr7:101931608-101931846	GM19240	blood:	n/a	chr7:101931725-101931738
19	CTCF	chr7:101931660-101931810	MCF-7	breast:	n/a	chr7:101931725-101931738
20	POLR2A	chr7:101929531-101935334	GM12892	blood:	n/a	n/a
21	YY1	chr7:101931565-101931809	GM12878	blood:	n/a	n/a
22	CTCF	chr7:101931660-101931810	GM12865	blood:	n/a	chr7:101931725-101931738
23	CTCF	chr7:101931660-101931810	NHEK	skin:	n/a	chr7:101931725-101931738
24	CTCF	chr7:101931628-101931838	GM19238	blood:	n/a	chr7:101931725-101931738
25	POLR2A	chr7:101929327-101931719	GM18526	blood:	n/a	n/a
26	CTCF	chr7:101931700-101931850	GM12873	blood:	n/a	chr7:101931725-101931738
27	CTCF	chr7:101931620-101931770	AG04450	lung:	n/a	chr7:101931725-101931738
28	CTCF	chr7:101931700-101931850	HPF	lung:	n/a	chr7:101931725-101931738
29	CHD2	chr7:101931544-101931802	GM12878	blood:	n/a	n/a
30	CTCF	chr7:101931660-101931810	NB4	blood:	n/a	chr7:101931725-101931738
31	CTCF	chr7:101931640-101931790	GM12869	blood:	n/a	chr7:101931725-101931738
32	CTCF	chr7:101931680-101931830	HCPEpiC	choroid plexus:	n/a	chr7:101931725-101931738
33	POLR2A	chr7:101931601-101933338	GM12878	blood:	n/a	n/a
34	CTCF	chr7:101931640-101931790	SK-N-SH_RA	brain:	n/a	chr7:101931725-101931738
35	CTCF	chr7:101931682-101931799	GM13976	blood:	n/a	chr7:101931725-101931738
36	CTCF	chr7:101931620-101931770	SAEC	small airway:	n/a	chr7:101931725-101931738
37	POLR2A	chr7:101929760-101931738	GM19193	blood:	n/a	n/a
38	CTCF	chr7:101931680-101931830	HMF	breast:	n/a	chr7:101931725-101931738
39	MTA3	chr7:101930635-101933343	GM12878	blood:	n/a	n/a
40	RAD21	chr7:101931663-101931759	K562	blood:	n/a	n/a
41	WRNIP1	chr7:101931640-101932182	GM12878	blood:	n/a	n/a
42	MTA3	chr7:101931492-101932649	GM12878	blood:	n/a	n/a
43	CTCF	chr7:101931620-101931770	HFF	foreskin:	n/a	chr7:101931725-101931738
44	RUNX3	chr7:101931535-101933007	GM12878	blood:	n/a	n/a
45	MXI1	chr7:101931650-101933407	GM12878	blood:	n/a	n/a
46	CTCF	chr7:101931700-101931850	HAc	cerebellar:	n/a	chr7:101931725-101931738
47	CTCF	chr7:101931624-101931843	Medullo	brain:	n/a	chr7:101931725-101931738
48	POLR2A	chr7:101930825-101933366	GM12878	blood:	n/a	n/a
49	CTCF	chr7:101931700-101931850	RPTEC	kidney:	n/a	chr7:101931725-101931738
50	CTCF	chr7:101931700-101931850	AG10803	skin:	n/a	chr7:101931725-101931738

No.	Distal block	Cell Line	Cell type
1	chr7:101930001..101933436-chr7:101942768..101945617,4	MCF-7	breast:
2	chr7:101931067..101932687-chr7:101942906..101945348,2	MCF-7	breast:
3	chr7:101928798..101932445-chr7:101950032..101952249,4	MCF-7	breast:
4	chr7:101929055..101931888-chr7:101946195..101949468,3	MCF-7	breast:
5	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
6	chr7:101929445..101932504-chr7:101961443..101964470,3	MCF-7	breast:
7	chr7:101929193..101933114-chr7:102002714..102005580,3	K562	blood:
8	chr7:101457570..101460867-chr7:101928374..101931760,6	MCF-7	breast:
9	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
10	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
11	chr7:101931459..101933316-chr7:102074143..102076023,2	K562	blood:
12	chr7:101929371..101932604-chr7:101956316..101959591,3	MCF-7	breast:
13	chr7:101930945..101933458-chr7:101949436..101952380,2	K562	blood:
14	chr7:101929405..101932228-chr7:102004089..102006204,3	MCF-7	breast:
15	chr7:101931480..101934447-chr7:101940162..101942129,3	MCF-7	breast:
16	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:

Variant related genes	Relation type
MIR4285	TF binding region
ENSG00000239969	Chromatin interaction
ENSG00000239480	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160999	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1725621	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1734735	0.86[EUR][1000 genomes]
rs1734753	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694160	0.85[EUR][1000 genomes]
rs712837	0.85[EUR][1000 genomes]
rs712839	0.86[EUR][1000 genomes]
rs712840	0.85[EUR][1000 genomes]
rs712841	0.92[EUR][1000 genomes]
rs803063	0.86[EUR][1000 genomes]
rs803083	0.85[EUR][1000 genomes]
rs803084	0.85[EUR][1000 genomes]
rs803085	0.86[EUR][1000 genomes]
rs803087	0.91[EUR][1000 genomes]
rs803088	0.86[EUR][1000 genomes]
rs803093	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs968951	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers 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 miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	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
16	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
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs803091	SH2B2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101928000-101932000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:101929400-101931800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:101929400-101932000	Active TSS	Fetal Kidney	kidney
4	chr7:101929400-101932200	Active TSS	HSMMtube	muscle
5	chr7:101929800-101931800	Active TSS	GM12878-XiMat	blood
6	chr7:101930200-101931800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:101930400-101931800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:101930400-101932000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr7:101930400-101932600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr7:101930400-101933000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:101930600-101931800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:101930600-101931800	Flanking Active TSS	Spleen	Spleen
13	chr7:101930600-101932000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr7:101930600-101932000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:101930800-101931800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:101930800-101931800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr7:101930800-101932000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr7:101930800-101932000	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr7:101930800-101932600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:101931000-101931800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:101931000-101931800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:101931000-101931800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:101931000-101931800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:101931000-101931800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:101931000-101932000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:101931000-101932000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:101931000-101932400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr7:101931000-101932400	Flanking Active TSS	HSMM	muscle
29	chr7:101931000-101933200	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr7:101931200-101931800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:101931200-101931800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:101931200-101931800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:101931200-101931800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:101931200-101931800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr7:101931200-101931800	Enhancers	Fetal Heart	heart
36	chr7:101931200-101931800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:101931200-101932000	Flanking Active TSS	Hela-S3	cervix
38	chr7:101931200-101932200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:101931200-101933000	Flanking Active TSS	Fetal Brain Female	brain
40	chr7:101931400-101931800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:101931400-101931800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:101931400-101931800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:101931400-101931800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:101931400-101931800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:101931400-101931800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr7:101931400-101931800	Flanking Active TSS	Fetal Brain Male	brain
47	chr7:101931400-101931800	Enhancers	Left Ventricle	heart
48	chr7:101931400-101931800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:101931400-101931800	Enhancers	Small Intestine	intestine
50	chr7:101931400-101931800	Bivalent Enhancer	NHEK	skin

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