Variant report

Variant	rs1723844
Chromosome Location	chr11:73469577-73469578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:73469511-73469851	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELK1	chr11:73469571-73469710	GM12878	blood:	n/a	n/a
3	HCFC1	chr11:73469159-73472987	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
3	chr11:73465031..73469665-chr11:73470039..73474084,7	MCF-7	breast:
4	chr11:73464912..73467811-chr11:73468593..73470766,3	K562	blood:
5	chr11:73467053..73470222-chr11:73470624..73472339,3	MCF-7	breast:
6	chr11:73461170..73462762-chr11:73468123..73470222,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000175581	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10898944	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11235903	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12293194	0.86[AFR][1000 genomes]
rs1466218	0.93[YRI][hapmap]
rs1525750	0.88[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1525751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1618529	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs1621654	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1624231	0.88[AMR][1000 genomes]
rs1670548	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1670553	0.93[YRI][hapmap]
rs1670560	0.93[YRI][hapmap]
rs1670561	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1723834	1.00[ASW][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723838	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1723839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723845	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723846	0.89[ASW][hapmap];0.81[LWK][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723849	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792157	1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792164	0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap]
rs1792195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880642	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1880643	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1976914	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2008722	0.90[ASW][hapmap]
rs2037706	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs2037709	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2056649	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs2366944	0.92[EUR][1000 genomes]
rs2444600	0.82[AFR][1000 genomes]
rs2462617	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511262	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs2511263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511269	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511275	0.93[YRI][hapmap]
rs2515091	0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515095	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap]
rs4548648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4551800	0.83[AFR][1000 genomes]
rs4944026	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs4944027	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944030	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944854	0.88[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4944857	0.92[EUR][1000 genomes]
rs4944859	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4944860	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs4944864	0.90[EUR][1000 genomes]
rs4944865	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs594814	0.89[ASW][hapmap]
rs610280	1.00[ASW][hapmap]
rs652229	1.00[ASW][hapmap]
rs6592528	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs6592529	1.00[ASW][hapmap];0.88[CEU][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7101957	1.00[CHD][hapmap];0.85[TSI][hapmap]
rs7108695	0.85[CEU][hapmap]
rs7396121	0.92[EUR][1000 genomes]
rs7932364	1.00[YRI][hapmap]
rs7942515	0.92[EUR][1000 genomes]
rs7950472	0.86[AFR][1000 genomes]
rs935989	0.93[YRI][hapmap]
rs940831	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs9634024	0.88[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking 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	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
3	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
4	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:73442200-73469600	Weak transcription	HSMM	muscle
8	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
9	chr11:73449600-73469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:73459000-73469600	Weak transcription	K562	blood
11	chr11:73461600-73470200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:73461800-73469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:73461800-73469800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:73461800-73470200	Weak transcription	Fetal Stomach	stomach
15	chr11:73463600-73470000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:73463600-73470600	Weak transcription	Fetal Thymus	thymus
17	chr11:73463600-73470600	Weak transcription	Thymus	Thymus
18	chr11:73463600-73470800	Weak transcription	Gastric	stomach
19	chr11:73463800-73470600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:73463800-73470600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:73464200-73469600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:73464200-73469600	Weak transcription	NH-A	brain
23	chr11:73464200-73470000	Weak transcription	Psoas Muscle	Psoas
24	chr11:73464200-73470200	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:73464200-73470800	Weak transcription	Lung	lung
26	chr11:73464400-73469600	Weak transcription	Colonic Mucosa	Colon
27	chr11:73464400-73469600	Weak transcription	Right Atrium	heart
28	chr11:73464400-73469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:73464400-73469800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:73464400-73470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:73464600-73469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:73465000-73470200	Weak transcription	Ovary	ovary
33	chr11:73465000-73470600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:73465000-73470800	Weak transcription	Small Intestine	intestine
35	chr11:73465800-73469600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:73465800-73470200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:73466200-73470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:73466800-73469600	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:73466800-73470800	Weak transcription	Pancreas	Pancrea
40	chr11:73467000-73469600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:73467000-73470200	Weak transcription	Right Ventricle	heart
42	chr11:73467000-73470600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:73467200-73469800	Enhancers	Hela-S3	cervix
44	chr11:73467800-73469600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr11:73468000-73470800	Weak transcription	Spleen	Spleen
46	chr11:73468200-73470000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:73468400-73469600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:73468400-73469600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:73468400-73469800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:73468400-73470000	Enhancers	Primary T helper cells fromperipheralblood	blood

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