Variant report

Variant	rs11144074
Chromosome Location	chr9:71485176-71485177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71483920..71486082-chr9:71487169..71489754,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10448322	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10448338	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10781282	0.86[CEU][hapmap]
rs10869320	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869538	0.93[CEU][hapmap]
rs11143741	0.86[CEU][hapmap]
rs11143761	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143777	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143870	0.93[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143882	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143900	0.81[CEU][hapmap]
rs11143938	0.83[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143951	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143988	0.92[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144059	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11144063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144136	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144138	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144152	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144154	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144163	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144178	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144181	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144206	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11144215	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144274	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11144305	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144327	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144351	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003432	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12339235	0.80[CEU][hapmap]
rs12376037	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376991	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377033	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12379061	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12552102	0.85[CEU][hapmap]
rs12555680	1.00[ASN][1000 genomes]
rs12555728	0.86[CEU][hapmap]
rs1414951	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414952	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414954	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057680	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs17058634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058780	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058792	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs17391456	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391582	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17483165	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376559	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744737	1.00[ASN][1000 genomes]
rs62552132	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566870	1.00[ASN][1000 genomes]
rs62566871	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566915	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62566916	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569349	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62571161	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042283	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72717956	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720053	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722034	1.00[ASN][1000 genomes]
rs7865397	0.80[CEU][hapmap];0.86[EUR][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:52 , 50 per page) page: 1 2

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	chr9:71474600-71492400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:71474800-71501800	Weak transcription	Right Ventricle	heart
12	chr9:71477000-71485600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:71478000-71486000	Strong transcription	Primary B cells from cord blood	blood
14	chr9:71479200-71501600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:71480800-71486200	Weak transcription	Gastric	stomach
16	chr9:71480800-71495600	Weak transcription	Lung	lung
17	chr9:71480800-71495600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:71480800-71501200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:71481200-71485600	Weak transcription	HepG2	liver
20	chr9:71481200-71504000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:71482000-71492600	Weak transcription	Fetal Intestine Large	intestine
22	chr9:71482400-71495200	Weak transcription	Fetal Intestine Small	intestine
23	chr9:71482600-71486800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:71482800-71485200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:71483400-71486800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:71483400-71486800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:71483400-71487000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:71483400-71487400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:71483600-71486800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:71483600-71486800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:71483600-71487000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:71483800-71485800	Enhancers	Brain Germinal Matrix	brain
33	chr9:71483800-71487000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:71483800-71487000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:71484000-71488000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:71484200-71486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:71484200-71487000	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:71484200-71487000	Weak transcription	Fetal Brain Female	brain
39	chr9:71484200-71487000	Weak transcription	Pancreas	Pancrea
40	chr9:71484400-71485200	Weak transcription	Right Atrium	heart
41	chr9:71484400-71486200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:71484400-71487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:71484400-71495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:71484600-71486400	Weak transcription	Fetal Heart	heart
45	chr9:71484600-71486800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:71484800-71485400	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:71484800-71487200	Enhancers	Colon Smooth Muscle	Colon
48	chr9:71485000-71485800	Enhancers	Rectal Smooth Muscle	rectum
49	chr9:71485000-71486000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:71485000-71486400	Strong transcription	Primary B cells from peripheral blood	blood

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