Variant report

Variant	rs10741723
Chromosome Location	chr11:17185664-17185665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17154024..17158946-chr11:17185264..17188139,4	K562	blood:
2	chr11:17182736..17185668-chr11:17187012..17188861,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10832730	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10832753	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap]
rs11024142	0.86[ASN][1000 genomes]
rs11024145	0.86[ASN][1000 genomes]
rs11024146	0.88[ASN][1000 genomes]
rs11024147	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[ASN][1000 genomes]
rs11024150	0.89[ASN][1000 genomes]
rs11024152	0.88[ASN][1000 genomes]
rs11024153	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11024185	0.99[ASN][1000 genomes]
rs11024186	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11024190	0.97[ASN][1000 genomes]
rs11024199	0.83[ASN][1000 genomes]
rs11024201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12225195	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12576590	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17847728	0.89[ASN][1000 genomes]
rs214933	0.86[LWK][hapmap];0.83[YRI][hapmap]
rs2302511	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4468326	0.83[LWK][hapmap]
rs4757499	0.99[ASN][1000 genomes]
rs6416174	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6486349	0.86[ASN][1000 genomes]
rs6486350	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6486353	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67771121	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7113011	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7122571	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7123825	0.87[ASN][1000 genomes]
rs7125085	0.86[AFR][1000 genomes]
rs7125829	1.00[YRI][hapmap]
rs7127204	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7127347	0.91[CHB][hapmap]
rs7130826	0.83[LWK][hapmap]
rs72632986	0.88[ASN][1000 genomes]
rs72632987	0.87[ASN][1000 genomes]
rs72632988	0.99[ASN][1000 genomes]
rs72632989	0.97[ASN][1000 genomes]
rs72632990	0.97[ASN][1000 genomes]
rs73433254	0.83[AFR][1000 genomes]
rs7928860	1.00[YRI][hapmap]
rs7929047	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7934596	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7941165	0.89[ASN][1000 genomes]
rs7945756	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
2	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
3	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
4	chr11:17150800-17186000	Weak transcription	NHLF	lung
5	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
8	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:17164400-17186200	Weak transcription	A549	lung
10	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:17166200-17190200	Weak transcription	NH-A	brain
12	chr11:17167000-17186000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
14	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:17167400-17186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
19	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
21	chr11:17167600-17186400	Weak transcription	HMEC	breast
22	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:17169400-17190600	Weak transcription	HSMM	muscle
25	chr11:17170800-17186400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:17171400-17186200	Weak transcription	Osteobl	bone
27	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
28	chr11:17173000-17186600	Weak transcription	NHEK	skin
29	chr11:17173600-17190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:17176200-17186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:17176600-17185800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:17176600-17190200	Weak transcription	Fetal Intestine Large	intestine
33	chr11:17176800-17188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:17176800-17190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:17177000-17186000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:17177000-17187800	Enhancers	HUVEC	blood vessel
37	chr11:17177000-17189200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:17178200-17188200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:17178400-17188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:17178600-17186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:17178600-17189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
43	chr11:17179600-17190000	Weak transcription	Fetal Kidney	kidney
44	chr11:17180200-17186000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:17181200-17187200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:17181400-17186400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:17181400-17186600	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:17181400-17187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:17181400-17187200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:17181400-17194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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