Variant report

Variant	rs11807511
Chromosome Location	chr1:227316372-227316373
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227312511..227315121-chr1:227315946..227317817,2	K562	blood:
2	chr1:227315023..227317648-chr1:227321044..227323168,2	K562	blood:
3	chr1:227316215..227319084-chr1:227324943..227327660,2	K562	blood:
4	chr1:227314587..227318154-chr1:227324311..227326852,3	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11802565	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807166	1.00[AMR][1000 genomes]
rs11807555	1.00[AMR][1000 genomes]
rs11807766	1.00[AMR][1000 genomes]
rs11808055	0.91[AFR][1000 genomes]
rs11808613	1.00[AMR][1000 genomes]
rs11810417	1.00[AMR][1000 genomes]
rs1355816	1.00[AMR][1000 genomes]
rs16846798	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847132	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847506	1.00[AMR][1000 genomes]
rs1888829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34413322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35099852	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4364839	1.00[AMR][1000 genomes]
rs55947609	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56168464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57660509	1.00[AMR][1000 genomes]
rs57895961	1.00[AMR][1000 genomes]
rs58077821	1.00[AMR][1000 genomes]
rs59396012	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59523055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59945801	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60039374	1.00[AMR][1000 genomes]
rs60423930	1.00[AMR][1000 genomes]
rs60906739	1.00[AMR][1000 genomes]
rs61494318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61588040	1.00[AMR][1000 genomes]
rs73086744	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087659	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087695	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088692	1.00[AMR][1000 genomes]
rs73089703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090609	1.00[AMR][1000 genomes]
rs73090689	1.00[AMR][1000 genomes]
rs73091744	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092512	1.00[AMR][1000 genomes]
rs73094358	1.00[AMR][1000 genomes]
rs73094365	1.00[AMR][1000 genomes]
rs73094366	1.00[AMR][1000 genomes]
rs73094390	1.00[AMR][1000 genomes]
rs73096314	1.00[AMR][1000 genomes]
rs73098345	1.00[AMR][1000 genomes]
rs73098350	1.00[AMR][1000 genomes]
rs73098391	1.00[AMR][1000 genomes]
rs73100303	1.00[AMR][1000 genomes]
rs73102913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102948	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102965	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7411165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143320	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
3	chr1:227272800-227331000	Weak transcription	Lung	lung
4	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
7	chr1:227288000-227326400	Weak transcription	A549	lung
8	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
12	chr1:227288600-227332400	Weak transcription	NHLF	lung
13	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
14	chr1:227288800-227317200	Weak transcription	NHEK	skin
15	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
16	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:227296400-227326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:227296600-227316400	Weak transcription	HSMMtube	muscle
19	chr1:227296600-227326200	Weak transcription	Fetal Lung	lung
20	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
21	chr1:227299200-227318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:227299800-227319600	Weak transcription	Fetal Intestine Large	intestine
23	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:227300000-227316400	Weak transcription	Osteobl	bone
25	chr1:227300000-227321800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:227300000-227325800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:227300000-227326400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:227300000-227328600	Weak transcription	Fetal Brain Female	brain
29	chr1:227300000-227329200	Weak transcription	Aorta	Aorta
30	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:227300200-227322000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:227300200-227322600	Weak transcription	Ovary	ovary
34	chr1:227300200-227326200	Weak transcription	Liver	Liver
35	chr1:227300200-227326400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
37	chr1:227300600-227316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:227300600-227316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:227300600-227326600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:227305400-227316400	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:227307000-227326400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:227311000-227329200	Weak transcription	Pancreas	Pancrea
43	chr1:227311000-227329400	Weak transcription	Fetal Intestine Small	intestine
44	chr1:227312800-227316400	Weak transcription	HSMM	muscle
45	chr1:227313000-227322000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:227313000-227326400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:227313600-227325600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:227314000-227326800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:227314000-227327800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:227314200-227321800	Weak transcription	Brain Anterior Caudate	brain

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