Variant report

Variant	rs4944591
Chromosome Location	chr11:72342310-72342311
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72333492..72335782-chr11:72342126..72344876,2	K562	blood:
2	chr11:72341497..72343932-chr11:72350783..72352444,2	K562	blood:
3	chr11:72342072..72343913-chr11:72348665..72350291,3	K562	blood:
4	chr11:72339617..72343114-chr11:72344003..72346053,4	K562	blood:
5	chr11:72303390..72305679-chr11:72341481..72343396,2	K562	blood:
6	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
7	chr11:72321045..72323854-chr11:72340699..72343138,2	K562	blood:
8	chr11:72309197..72311837-chr11:72341889..72344712,2	K562	blood:
9	chr11:72341496..72343582-chr11:72364594..72367336,2	MCF-7	breast:
10	chr11:72336037..72338838-chr11:72339942..72342746,4	K562	blood:

No data

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1009708	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898860	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235555	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11603077	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11605720	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2047506	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2365769	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs405851	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4943961	0.86[ASN][1000 genomes]
rs4944589	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4944599	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944608	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944635	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55816112	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55835028	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7111188	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111915	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930245	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934444	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
2	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
3	chr11:72335600-72344600	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr11:72335800-72342600	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
7	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
8	chr11:72336000-72345000	Enhancers	Fetal Muscle Leg	muscle
9	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:72336400-72343200	Enhancers	Brain Germinal Matrix	brain
11	chr11:72337400-72342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:72337400-72342800	Weak transcription	Pancreas	Pancrea
13	chr11:72337600-72343000	Weak transcription	Liver	Liver
14	chr11:72337800-72342400	Weak transcription	Fetal Heart	heart
15	chr11:72337800-72348200	Weak transcription	Gastric	stomach
16	chr11:72338200-72342400	Weak transcription	K562	blood
17	chr11:72338200-72342600	Weak transcription	Fetal Intestine Large	intestine
18	chr11:72338400-72342600	Weak transcription	Colonic Mucosa	Colon
19	chr11:72338400-72342600	Weak transcription	HUVEC	blood vessel
20	chr11:72338400-72348200	Weak transcription	Ovary	ovary
21	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:72339600-72342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:72339600-72345000	Genic enhancers	Spleen	Spleen
24	chr11:72339800-72345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr11:72340200-72344600	Enhancers	Psoas Muscle	Psoas
26	chr11:72340200-72345000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
29	chr11:72341000-72343400	Weak transcription	Fetal Intestine Small	intestine
30	chr11:72341200-72342400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:72341200-72343400	Enhancers	Colon Smooth Muscle	Colon
32	chr11:72341400-72342400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr11:72341400-72342400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:72341400-72342600	Weak transcription	HSMM	muscle
35	chr11:72341400-72343000	Weak transcription	Hela-S3	cervix
36	chr11:72341400-72343200	Enhancers	HSMMtube	muscle
37	chr11:72341400-72343600	Enhancers	Brain Substantia Nigra	brain
38	chr11:72341400-72344400	Enhancers	Adipose Nuclei	Adipose
39	chr11:72341400-72346200	Enhancers	Right Ventricle	heart
40	chr11:72341600-72343000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:72341600-72343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:72341600-72343400	Weak transcription	Right Atrium	heart
43	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
44	chr11:72342200-72343800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:72342200-72344200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:72342200-72344600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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