Variant report

Variant	rs6560419
Chromosome Location	chr9:71510477-71510478
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71509323..71512196-chr9:71514082..71515973,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10115871	0.83[JPT][hapmap]
rs10746969	0.96[ASN][1000 genomes]
rs10781257	0.81[ASN][1000 genomes]
rs10781264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[ASN][1000 genomes]
rs10781265	0.97[ASN][1000 genomes]
rs10869365	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs10869396	0.91[JPT][hapmap]
rs10869403	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10869415	0.80[ASN][1000 genomes]
rs10869419	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10869420	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10869432	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10869442	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10869487	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11144021	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11144035	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13284709	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs1414947	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1414949	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2152647	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4145885	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs4237270	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744726	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4745295	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4745327	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs4745328	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs4745353	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4745360	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4745366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6560406	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7031640	0.86[JPT][hapmap]
rs7033278	0.84[JPT][hapmap]
rs7043133	0.89[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7043242	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7043868	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7851923	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7864097	0.91[JPT][hapmap]
rs7874714	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs883952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs944856	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs952589	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr9:71492400-71515000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71495800-71510800	Weak transcription	Aorta	Aorta
5	chr9:71496600-71515200	Weak transcription	HepG2	liver
6	chr9:71500200-71512000	Weak transcription	Placenta	Placenta
7	chr9:71502600-71516600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:71505400-71512000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:71506200-71511400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:71508800-71512600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr9:71508800-71515200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:71509000-71511200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr9:71509000-71512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:71509200-71510600	Enhancers	Primary B cells from cord blood	blood
15	chr9:71509200-71511000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:71509200-71512000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr9:71509200-71514600	Enhancers	Fetal Heart	heart
18	chr9:71509400-71510600	Weak transcription	Brain Substantia Nigra	brain
19	chr9:71509400-71510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:71509400-71511200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:71509400-71511600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr9:71509600-71510600	Enhancers	Primary hematopoietic stem cells	blood
23	chr9:71509600-71510800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:71509600-71511400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:71509600-71511600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:71509600-71512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:71509600-71513000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr9:71509800-71510600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr9:71509800-71510600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr9:71509800-71510600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:71509800-71510800	Enhancers	Primary B cells from peripheral blood	blood
32	chr9:71509800-71510800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr9:71509800-71511000	Enhancers	Adipose Nuclei	Adipose
34	chr9:71509800-71511600	Enhancers	Fetal Lung	lung
35	chr9:71509800-71511800	Weak transcription	Lung	lung
36	chr9:71509800-71512200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:71509800-71512200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr9:71509800-71514000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:71510000-71510600	Enhancers	Left Ventricle	heart
40	chr9:71510000-71510600	Enhancers	Small Intestine	intestine
41	chr9:71510000-71510600	Enhancers	Spleen	Spleen
42	chr9:71510000-71510800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:71510000-71510800	Enhancers	Brain Hippocampus Middle	brain
44	chr9:71510000-71510800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr9:71510000-71511200	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:71510000-71511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:71510000-71511800	Flanking Active TSS	Dnd41	blood
48	chr9:71510200-71510800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:71510200-71510800	Enhancers	Right Atrium	heart
50	chr9:71510200-71511400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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