Variant report

Variant	rs7857352
Chromosome Location	chr9:71460400-71460401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:71459803-71460450	A549	lung:	n/a	n/a
2	PML	chr9:71459369-71460596	GM12878	blood:	n/a	n/a
3	CTCF	chr9:71459793-71460411	HCT-116	colon:	n/a	n/a
4	CTCF	chr9:71460360-71460510	NHEK	skin:	n/a	n/a
5	CTCF	chr9:71460380-71460530	GM12867	blood:	n/a	n/a
6	CTCF	chr9:71460360-71460510	NHLF	lung:	n/a	n/a
7	RAD21	chr9:71459829-71460412	HCT-116	colon:	n/a	n/a
8	CTCF	chr9:71460340-71460490	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr9:71460320-71460470	AG10803	skin:	n/a	n/a
10	RAD21	chr9:71459800-71460430	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr9:71460342-71460414	GM12891	blood:	n/a	n/a
12	CTCF	chr9:71460380-71460530	GM12866	blood:	n/a	n/a
13	CTCF	chr9:71459792-71460467	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71459669..71460505-chr9:71614463..71615113,2	MCF-7	breast:
2	chr9:71459672..71460600-chr9:71642433..71642935,2	K562	blood:
3	chr9:71199142..71200264-chr9:71459602..71460948,4	K562	blood:
4	chr9:71199061..71199763-chr9:71459847..71460712,3	MCF-7	breast:
5	chr9:71199104..71200136-chr9:71459624..71460607,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236733	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10511962	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10511963	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10781227	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10869360	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10869365	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10869395	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10869396	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869400	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10869401	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10869403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10869407	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10869415	0.90[ASN][1000 genomes]
rs10869419	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10869420	0.88[ASN][1000 genomes]
rs11144021	0.89[ASN][1000 genomes]
rs11792022	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13284709	0.88[ASN][1000 genomes]
rs1414944	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1414947	0.82[ASN][1000 genomes]
rs1414949	0.80[ASN][1000 genomes]
rs2027025	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4145885	0.90[ASN][1000 genomes]
rs4745295	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4745327	0.92[ASN][1000 genomes]
rs4745328	0.92[ASN][1000 genomes]
rs4745353	0.84[ASN][1000 genomes]
rs4745360	0.82[ASN][1000 genomes]
rs6560391	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6560392	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7031640	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7033278	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7851923	0.82[ASN][1000 genomes]
rs7856247	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7874714	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs944856	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9776840	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71440600-71466600	Weak transcription	Gastric	stomach
4	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
6	chr9:71456800-71460600	Enhancers	Left Ventricle	heart
7	chr9:71458200-71466200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:71458400-71460800	Enhancers	GM12878-XiMat	blood
9	chr9:71458600-71460400	Enhancers	K562	blood
10	chr9:71458600-71460600	Enhancers	Brain Anterior Caudate	brain
11	chr9:71458600-71464200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71458800-71460400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr9:71458800-71460600	Enhancers	Right Atrium	heart
14	chr9:71458800-71460600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr9:71458800-71465000	Weak transcription	Fetal Intestine Large	intestine
16	chr9:71459000-71466600	Weak transcription	Pancreas	Pancrea
17	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
18	chr9:71459400-71480000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:71459600-71460400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:71459600-71460400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:71459600-71462600	Weak transcription	Right Ventricle	heart
22	chr9:71459800-71460400	Active TSS	Aorta	Aorta
23	chr9:71459800-71478600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr9:71460000-71460400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:71460000-71460600	Enhancers	Primary B cells from cord blood	blood
26	chr9:71460000-71464200	Weak transcription	Fetal Intestine Small	intestine
27	chr9:71460200-71460400	Enhancers	Primary hematopoietic stem cells	blood
28	chr9:71460200-71460400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr9:71460200-71460600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:71460200-71460600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:71460200-71460800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:71460200-71461400	Weak transcription	Fetal Heart	heart
33	chr9:71460400-71460600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:71460400-71460600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr9:71460400-71460800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr9:71460400-71495600	Weak transcription	Aorta	Aorta

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