Variant report

Variant	rs1983488
Chromosome Location	chr7:70229685-70229686
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	POLR2A	chr7:70226672-70231239	GM12878	blood:	n/a	n/a
2	IRF4	chr7:70229022-70229777	GM12878	blood:	n/a	chr7:70229523-70229537
3	POLR2A	chr7:70225557-70231872	GM12878	blood:	n/a	n/a
4	CUX1	chr7:70228940-70229785	GM12878	blood:	n/a	n/a
5	ATF2	chr7:70228852-70229895	GM12878	blood:	n/a	n/a
6	POU2F2	chr7:70228963-70229766	GM12878	blood:	n/a	n/a
7	PAX5	chr7:70228878-70229691	GM12878	blood:	n/a	n/a
8	SPI1	chr7:70229322-70229954	GM12878	blood:	n/a	chr7:70229616-70229623
9	FOXM1	chr7:70228871-70229808	GM12878	blood:	n/a	n/a
10	RELA	chr7:70229087-70229691	GM19193	blood:	n/a	n/a
11	ZNF384	chr7:70228914-70229938	GM12878	blood:	n/a	n/a
12	SMC3	chr7:70228385-70229750	GM12878	blood:	n/a	chr7:70229112-70229119
13	BCL3	chr7:70228934-70229775	GM12878	blood:	n/a	chr7:70229064-70229072
14	POLR2A	chr7:70227666-70230807	GM12878	blood:	n/a	n/a
15	IRF4	chr7:70229204-70229749	GM12878	blood:	n/a	chr7:70229523-70229537
16	NFATC1	chr7:70228949-70229696	GM12878	blood:	n/a	n/a
17	EP300	chr7:70228785-70229718	GM12878	blood:	n/a	chr7:70228822-70228831 chr7:70229090-70229104 chr7:70229279-70229293 chr7:70228874-70228888
18	SP1	chr7:70228902-70229693	GM12878	blood:	n/a	n/a
19	RUNX3	chr7:70228823-70230114	GM12878	blood:	n/a	chr7:70229113-70229130
20	RELA	chr7:70228972-70229698	GM10847	blood:	n/a	n/a
21	EBF1	chr7:70228862-70229740	GM12878	blood:	n/a	chr7:70229188-70229199
22	CHD1	chr7:70228893-70230075	GM12878	blood:	n/a	n/a
23	RAD21	chr7:70228892-70229742	GM12878	blood:	n/a	chr7:70229110-70229119
24	RELA	chr7:70228987-70230139	GM15510	blood:	n/a	n/a
25	EBF1	chr7:70228207-70229798	GM12878	blood:	n/a	chr7:70228403-70228413 chr7:70228492-70228505 chr7:70229188-70229199 chr7:70228403-70228412 chr7:70228367-70228376 chr7:70228401-70228414 chr7:70228367-70228376
26	SP1	chr7:70228974-70229731	GM12878	blood:	n/a	n/a
27	MAX	chr7:70228982-70230299	GM12878	blood:	n/a	n/a
28	NFIC	chr7:70228451-70230279	GM12878	blood:	n/a	n/a
29	MTA3	chr7:70228799-70229693	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:70229258-70229776	GM12892	blood:	n/a	n/a
31	SPI1	chr7:70229389-70229724	GM12891	blood:	n/a	chr7:70229616-70229623
32	TBL1XR1	chr7:70228612-70230264	GM12878	blood:	n/a	n/a
33	RELA	chr7:70228994-70229727	GM18505	blood:	n/a	n/a
34	BCL11A	chr7:70229154-70229733	GM12878	blood:	n/a	n/a
35	MAZ	chr7:70228822-70230109	GM12878	blood:	n/a	n/a
36	ZNF143	chr7:70228968-70229748	GM12878	blood:	n/a	n/a
37	RUNX3	chr7:70228786-70230330	GM12878	blood:	n/a	chr7:70229113-70229130
38	IKZF1	chr7:70228706-70229755	GM12878	blood:	n/a	n/a
39	RCOR1	chr7:70228606-70229802	GM12878	blood:	n/a	n/a
40	MEF2C	chr7:70229232-70229739	GM12878	blood:	n/a	n/a
41	NFIC	chr7:70228784-70229858	GM12878	blood:	n/a	n/a
42	TCF12	chr7:70229157-70229718	GM12878	blood:	n/a	chr7:70229528-70229535
43	MTA3	chr7:70228052-70230460	GM12878	blood:	n/a	n/a
44	TAF1	chr7:70228988-70229796	GM12878	blood:	n/a	n/a
45	BHLHE40	chr7:70228638-70230174	GM12878	blood:	n/a	n/a
46	EBF1	chr7:70228920-70229713	GM12878	blood:	n/a	chr7:70229188-70229199
47	POLR2A	chr7:70229330-70231957	H1-neurons	neurons:	n/a	n/a
48	MXI1	chr7:70228985-70229699	GM12878	blood:	n/a	n/a
49	RELA	chr7:70228649-70229746	GM12878	blood:	n/a	n/a
50	STAT5A	chr7:70228292-70229780	GM12878	blood:	n/a	chr7:70228759-70228767

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17604413	0.81[ASN][1000 genomes]
rs56115165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6942467	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973153	0.91[EUR][1000 genomes]
rs73170214	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803932	0.84[AMR][1000 genomes]
rs9768784	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription 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	2 gene(s)	inside rSNPs	diseases
4	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	2 gene(s)	inside rSNPs	diseases
13	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
2	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:70214200-70230200	Weak transcription	NHEK	skin
4	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
5	chr7:70216200-70230400	Weak transcription	Pancreas	Pancrea
6	chr7:70216800-70231000	Weak transcription	HMEC	breast
7	chr7:70217000-70230400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:70217200-70230200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:70218000-70230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:70218200-70231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:70218400-70230000	Weak transcription	NH-A	brain
12	chr7:70218400-70230600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:70218600-70230200	Weak transcription	HSMM	muscle
14	chr7:70218600-70230600	Weak transcription	HSMMtube	muscle
15	chr7:70218600-70241600	Weak transcription	Fetal Heart	heart
16	chr7:70222000-70230400	Weak transcription	Aorta	Aorta
17	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:70223200-70229800	Weak transcription	Thymus	Thymus
19	chr7:70223200-70238000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:70223400-70237400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:70223800-70230000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:70224600-70231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:70225400-70232800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:70226200-70230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:70226400-70254800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70226800-70231000	Weak transcription	Colonic Mucosa	Colon
27	chr7:70227000-70230600	Weak transcription	NHLF	lung
28	chr7:70227200-70230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:70227400-70229800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:70227400-70233400	Strong transcription	Fetal Stomach	stomach
31	chr7:70227400-70237400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:70227400-70253000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:70227600-70230200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:70227600-70230400	Enhancers	Fetal Brain Male	brain
35	chr7:70227600-70231000	Strong transcription	Fetal Intestine Large	intestine
36	chr7:70227600-70232000	Strong transcription	Fetal Intestine Small	intestine
37	chr7:70227600-70233400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:70227600-70234600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:70227600-70236600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:70227600-70237400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:70227600-70241400	Strong transcription	Dnd41	blood
42	chr7:70227800-70230000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:70227800-70230200	Weak transcription	Right Ventricle	heart
44	chr7:70227800-70232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:70228000-70229800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:70228000-70231800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:70228000-70249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:70228200-70230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:70228200-70230200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:70228200-70236200	Weak transcription	Colon Smooth Muscle	Colon

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