Variant report

Variant	rs11980995
Chromosome Location	chr7:98973279-98973280
allele	C/G
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
2	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
3	chr17:56736227..56737813-chr7:98971869..98973511,2	MCF-7	breast:
4	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
5	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
6	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
7	chr7:98972239..98973814-chr7:100025905..100028076,2	K562	blood:
8	chr7:98954568..98956787-chr7:98970778..98974586,3	K562	blood:
9	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
10	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:
11	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:
12	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
13	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
14	chr7:98964521..98966549-chr7:98972530..98974086,2	K562	blood:
15	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
16	chr7:98960735..98962615-chr7:98972304..98974444,2	K562	blood:
17	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
18	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
19	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
20	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10085772	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10215765	1.00[ASN][1000 genomes]
rs10215854	1.00[ASN][1000 genomes]
rs10226310	1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	1.00[ASN][1000 genomes]
rs10235235	1.00[ASN][1000 genomes]
rs10236240	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261635	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10264505	1.00[ASN][1000 genomes]
rs10268984	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273424	1.00[ASN][1000 genomes]
rs10275381	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277447	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808112	1.00[ASN][1000 genomes]
rs10953288	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953289	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11555142	1.00[ASN][1000 genomes]
rs11761528	1.00[ASN][1000 genomes]
rs11766423	1.00[ASN][1000 genomes]
rs11971640	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973173	1.00[ASN][1000 genomes]
rs11973801	1.00[ASN][1000 genomes]
rs11974593	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978345	1.00[ASN][1000 genomes]
rs11978582	1.00[ASN][1000 genomes]
rs11980143	1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531852	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533251	1.00[ASN][1000 genomes]
rs12535424	1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13226604	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13227522	1.00[ASN][1000 genomes]
rs13243267	1.00[ASN][1000 genomes]
rs17161687	1.00[ASN][1000 genomes]
rs17161761	1.00[ASN][1000 genomes]
rs2003498	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419687	1.00[ASN][1000 genomes]
rs28602855	1.00[ASN][1000 genomes]
rs28627543	1.00[ASN][1000 genomes]
rs34111611	1.00[ASN][1000 genomes]
rs34257469	1.00[ASN][1000 genomes]
rs35183025	1.00[ASN][1000 genomes]
rs35296070	1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	1.00[ASN][1000 genomes]
rs45618033	1.00[ASN][1000 genomes]
rs4765	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761861	1.00[ASN][1000 genomes]
rs57786744	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	1.00[ASN][1000 genomes]
rs60127638	1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs61740607	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs66674233	1.00[ASN][1000 genomes]
rs67279166	1.00[ASN][1000 genomes]
rs67309224	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67860332	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs67934834	1.00[ASN][1000 genomes]
rs6947826	1.00[ASN][1000 genomes]
rs6947941	1.00[ASN][1000 genomes]
rs6947974	1.00[ASN][1000 genomes]
rs6955891	1.00[ASN][1000 genomes]
rs6960810	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704798	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157587	1.00[ASN][1000 genomes]
rs73157588	1.00[ASN][1000 genomes]
rs73157589	1.00[ASN][1000 genomes]
rs73157590	1.00[ASN][1000 genomes]
rs73157596	1.00[ASN][1000 genomes]
rs73157600	1.00[ASN][1000 genomes]
rs73157601	1.00[ASN][1000 genomes]
rs73157602	1.00[ASN][1000 genomes]
rs73159506	1.00[ASN][1000 genomes]
rs73159509	1.00[ASN][1000 genomes]
rs73159522	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[ASN][1000 genomes]
rs7778859	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868391	1.00[ASN][1000 genomes]
rs9632722	1.00[ASN][1000 genomes]
rs9656060	1.00[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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv3409473	chr7:98971041-98973589	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3422095	chr7:98971441-98974189	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98970800-98977000	Weak transcription	Fetal Lung	lung
2	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
3	chr7:98971400-98973400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:98971400-98973400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:98971400-98973400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:98971400-98973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:98971400-98973400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:98971400-98973400	Active TSS	HSMM	muscle
9	chr7:98971400-98974200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:98971600-98973400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:98971600-98973400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:98971600-98973400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:98971600-98973400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:98971600-98973400	Active TSS	Aorta	Aorta
15	chr7:98971600-98973400	Active TSS	Colon Smooth Muscle	Colon
16	chr7:98971600-98973400	Active TSS	Esophagus	oesophagus
17	chr7:98971600-98973400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:98971600-98973400	Active TSS	Placenta Amnion	Placenta Amnion
19	chr7:98971600-98973400	Active TSS	Right Atrium	heart
20	chr7:98971600-98973400	Active TSS	NHEK	skin
21	chr7:98971600-98973600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:98971600-98973600	Active TSS	Primary T cells from cord blood	blood
23	chr7:98971600-98973600	Active TSS	Right Ventricle	heart
24	chr7:98971600-98973800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:98971600-98973800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:98971600-98974200	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:98971800-98973400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:98971800-98973400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:98971800-98973400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr7:98971800-98973400	Active TSS	Brain Angular Gyrus	brain
31	chr7:98971800-98973400	Active TSS	Brain Anterior Caudate	brain
32	chr7:98971800-98973400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr7:98971800-98973400	Active TSS	Small Intestine	intestine
34	chr7:98971800-98973400	Active TSS	Spleen	Spleen
35	chr7:98971800-98973400	Active TSS	Hela-S3	cervix
36	chr7:98971800-98973400	Active TSS	HSMMtube	muscle
37	chr7:98971800-98973400	Active TSS	NHLF	lung
38	chr7:98971800-98973400	Active TSS	Osteobl	bone
39	chr7:98971800-98973600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:98971800-98973600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:98971800-98973600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:98971800-98973600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:98971800-98973600	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr7:98971800-98973600	Active TSS	A549	lung
45	chr7:98971800-98973600	Active TSS	HUVEC	blood vessel
46	chr7:98971800-98973600	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:98971800-98973600	Active TSS	NHDF-Ad	bronchial
48	chr7:98971800-98973800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:98971800-98973800	Active TSS	GM12878-XiMat	blood
50	chr7:98972000-98973400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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