Variant report

Variant	rs10282283
Chromosome Location	chr7:70192496-70192497
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	JUND	chr7:70191249-70192535	T-47D	breast:	n/a	n/a
2	RUNX3	chr7:70191660-70192505	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr7:70191841-70192536	MCF-7	breast:	n/a	n/a
4	EBF1	chr7:70191672-70193248	GM12878	blood:	n/a	n/a
5	PAX5	chr7:70191825-70192510	GM12878	blood:	n/a	chr7:70191981-70191990
6	EP300	chr7:70191958-70192558	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70182197..70184832-chr7:70191535..70193515,2	MCF-7	breast:

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10239618	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10247394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10275631	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10276074	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10282512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764092	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12698920	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13234828	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28664154	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35524416	0.81[AFR][1000 genomes]
rs4717546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718989	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718990	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966950	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794301	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	esv1834837	chr7:70171159-70202993	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1839975	chr7:70171159-70202993	Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1812409	chr7:70187264-70206903	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:70176400-70193800	Weak transcription	NH-A	brain
4	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:70180200-70193800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:70182600-70194000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:70183000-70194000	Weak transcription	Fetal Stomach	stomach
8	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:70183200-70193800	Weak transcription	Thymus	Thymus
10	chr7:70183200-70194000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:70183200-70200200	Weak transcription	Ovary	ovary
12	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
13	chr7:70183400-70193800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:70183400-70194000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:70183400-70195400	Weak transcription	HSMM	muscle
16	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:70184400-70195200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:70184600-70193000	Enhancers	Liver	Liver
19	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
20	chr7:70186000-70195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:70186400-70198200	Weak transcription	Dnd41	blood
22	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:70188600-70192600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:70188600-70193000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:70189200-70193000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:70189200-70193800	Weak transcription	Lung	lung
27	chr7:70189800-70193800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:70189800-70194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:70190200-70194600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
31	chr7:70190600-70193800	Weak transcription	Fetal Lung	lung
32	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
33	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
35	chr7:70190800-70193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:70190800-70194000	Weak transcription	Gastric	stomach
37	chr7:70190800-70194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:70190800-70195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:70190800-70198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:70191000-70194200	Weak transcription	Esophagus	oesophagus
42	chr7:70191000-70197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:70191400-70195000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:70191600-70193000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr7:70191600-70195000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:70191800-70194000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:70191800-70194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:70192000-70193000	Enhancers	Fetal Brain Male	brain
49	chr7:70192000-70193000	Weak transcription	Fetal Brain Female	brain
50	chr7:70192000-70193000	Enhancers	HMEC	breast

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