Variant report

Variant	rs7849727
Chromosome Location	chr9:71483042-71483043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71481298..71483718-chr9:71491074..71493993,2	MCF-7	breast:
2	chr9:71477100..71479785-chr9:71480744..71483651,2	K562	blood:
3	chr9:71477461..71479791-chr9:71480861..71483693,2	MCF-7	breast:
4	chr9:71478285..71480867-chr9:71481891..71483651,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10114785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10117744	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs10117789	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10119445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10121974	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10124098	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10869538	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11143739	0.88[JPT][hapmap]
rs11143755	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11143975	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11143976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11143977	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11144313	0.83[ASN][1000 genomes]
rs12336702	0.86[EUR][1000 genomes]
rs12336788	0.87[ASN][1000 genomes]
rs12336829	0.87[ASN][1000 genomes]
rs12337137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs12338217	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12341382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12341508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12341625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12345359	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12348156	0.84[ASN][1000 genomes]
rs12348451	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12349555	0.84[ASN][1000 genomes]
rs12349647	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12350004	0.84[ASN][1000 genomes]
rs12350205	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12351476	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12351485	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs12351519	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12352746	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1414945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2027023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2039624	0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28371821	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28375745	0.88[ASN][1000 genomes]
rs28406181	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28444745	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28535486	0.81[AMR][1000 genomes]
rs3750375	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3750376	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3763607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3829061	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4237272	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs56994943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58984094	1.00[EUR][1000 genomes]
rs61453631	0.86[EUR][1000 genomes]
rs61547334	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6560418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018568	0.83[YRI][hapmap]
rs7018854	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7019202	0.88[JPT][hapmap]
rs7021259	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7024695	0.88[JPT][hapmap]
rs7024959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7027620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7035068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7035892	0.88[JPT][hapmap]
rs7037674	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7041194	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7046642	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7047250	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7048275	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73646761	1.00[EUR][1000 genomes]
rs7847379	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7851905	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7852244	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855274	0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7859396	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7863960	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7865800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7869689	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7870383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875472	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs953036	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
13	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
14	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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
16	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
3	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
4	chr9:71460400-71495600	Weak transcription	Aorta	Aorta
5	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:71463400-71492800	Weak transcription	GM12878-XiMat	blood
7	chr9:71463600-71501800	Weak transcription	Small Intestine	intestine
8	chr9:71467800-71495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:71468200-71486600	Weak transcription	Left Ventricle	heart
10	chr9:71470600-71483600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:71474600-71492400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:71474800-71501800	Weak transcription	Right Ventricle	heart
13	chr9:71476800-71483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:71476800-71483600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:71477000-71485600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:71477200-71483400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:71477200-71483600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:71477800-71483800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:71478000-71486000	Strong transcription	Primary B cells from cord blood	blood
20	chr9:71479200-71483600	Weak transcription	Fetal Heart	heart
21	chr9:71479200-71501600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:71480000-71483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:71480800-71483800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:71480800-71486200	Weak transcription	Gastric	stomach
25	chr9:71480800-71495600	Weak transcription	Lung	lung
26	chr9:71480800-71495600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:71480800-71501200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:71481000-71485000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr9:71481200-71485600	Weak transcription	HepG2	liver
30	chr9:71481200-71504000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:71481800-71483800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:71482000-71492600	Weak transcription	Fetal Intestine Large	intestine
33	chr9:71482400-71483400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:71482400-71495200	Weak transcription	Fetal Intestine Small	intestine
35	chr9:71482600-71486800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:71482800-71483400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:71482800-71485200	Weak transcription	Duodenum Mucosa	Duodenum

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