Variant report

Variant	rs11992533
Chromosome Location	chr8:103823605-103823606
allele	C/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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
2	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
3	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
4	chr8:103665035..103666995-chr8:103822531..103823783,6	K562	blood:
5	chr8:103612475..103613967-chr8:103822902..103824162,4	MCF-7	breast:
6	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
7	chr14:73525108..73526850-chr8:103822146..103823789,2	MCF-7	breast:
8	chr8:103663750..103664726-chr8:103822777..103823778,9	MCF-7	breast:
9	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
10	chr8:103639335..103640286-chr8:103822929..103823765,4	MCF-7	breast:
11	chr8:103663361..103664632-chr8:103822267..103823755,10	MCF-7	breast:
12	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
13	chr8:103823248..103825038-chr8:103870591..103872347,2	K562	blood:
14	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
15	chr8:103742324..103745222-chr8:103822758..103824576,2	K562	blood:
16	chr8:103596964..103598565-chr8:103822349..103823714,7	MCF-7	breast:
17	chr8:103665794..103666765-chr8:103822627..103823731,3	MCF-7	breast:
18	chr8:103660043..103660805-chr8:103823098..103823789,2	MCF-7	breast:
19	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
20	chr8:103660131..103660939-chr8:103823181..103823689,2	MCF-7	breast:
21	chr8:103662408..103663028-chr8:103823124..103823655,2	MCF-7	breast:
22	chr8:103693070..103695216-chr8:103822636..103825245,2	K562	blood:
23	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
24	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
25	chr8:102504262..102506500-chr8:103822604..103825982,3	MCF-7	breast:
26	chr8:103732314..103735050-chr8:103822307..103824951,2	MCF-7	breast:
27	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
28	chr8:103663739..103664942-chr8:103822777..103823773,7	K562	blood:
29	chr8:103507170..103509944-chr8:103823131..103824784,2	MCF-7	breast:
30	chr8:103604696..103605200-chr8:103823598..103824163,2	MCF-7	breast:
31	chr8:103249572..103251193-chr8:103822778..103825686,2	K562	blood:
32	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
33	chr8:103793774..103795372-chr8:103823540..103825118,2	MCF-7	breast:
34	chr8:103822430..103824657-chr8:104048690..104050803,2	MCF-7	breast:
35	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
36	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
37	chr8:103823562..103825489-chr8:103874490..103876820,2	K562	blood:
38	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
39	chr8:103639519..103640281-chr8:103822930..103823782,4	MCF-7	breast:
40	chr8:103703111..103704923-chr8:103821705..103823868,2	K562	blood:
41	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
42	chr8:103823092..103825494-chr8:103875474..103877752,2	K562	blood:
43	chr8:103739412..103741779-chr8:103821663..103824081,2	MCF-7	breast:
44	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
45	chr8:103769141..103772135-chr8:103823545..103826009,2	K562	blood:
46	chr8:103422161..103424073-chr8:103822681..103825599,2	MCF-7	breast:
47	chr8:103249693..103252813-chr8:103822764..103825686,3	K562	blood:
48	chr8:103705965..103707674-chr8:103821217..103823842,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000258813	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000048392	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10086193	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104174	0.89[AMR][1000 genomes]
rs10109351	0.89[AMR][1000 genomes]
rs13439806	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs28391319	0.89[AMR][1000 genomes]
rs28485929	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60663456	0.89[AMR][1000 genomes]
rs6994115	0.85[YRI][hapmap]
rs73280743	0.89[AMR][1000 genomes]
rs73701529	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817818	0.89[AMR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3402705	chr8:103821801-103824349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103819800-103823800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:103821600-103826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103822200-103823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:103822400-103823800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr8:103822400-103823800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:103822400-103824200	Flanking Active TSS	Dnd41	blood
7	chr8:103822600-103823800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:103822800-103823800	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:103822800-103823800	Enhancers	Liver	Liver
10	chr8:103822800-103823800	Active TSS	K562	blood
11	chr8:103822800-103823800	Enhancers	NHDF-Ad	bronchial
12	chr8:103822800-103824000	Enhancers	HSMMtube	muscle
13	chr8:103822800-103824600	Weak transcription	Spleen	Spleen
14	chr8:103822800-103825200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:103822800-103825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:103822800-103826400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:103822800-103837400	Weak transcription	Gastric	stomach
18	chr8:103823000-103823800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:103823000-103823800	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:103823000-103823800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:103823000-103823800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:103823000-103823800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:103823000-103823800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:103823000-103823800	Enhancers	Colon Smooth Muscle	Colon
25	chr8:103823000-103823800	Enhancers	Fetal Muscle Leg	muscle
26	chr8:103823000-103823800	Enhancers	Fetal Stomach	stomach
27	chr8:103823000-103824000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:103823000-103824000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:103823000-103824000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:103823000-103825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:103823000-103825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:103823000-103825200	Weak transcription	Colonic Mucosa	Colon
33	chr8:103823000-103825200	Weak transcription	Lung	lung
34	chr8:103823000-103826200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:103823000-103826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:103823000-103826400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:103823000-103826600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:103823000-103826600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:103823000-103826600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:103823000-103826800	Weak transcription	Left Ventricle	heart
41	chr8:103823000-103831600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:103823000-103835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:103823000-103835600	Weak transcription	Adipose Nuclei	Adipose
44	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
47	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
48	chr8:103823200-103823800	Flanking Active TSS	HUVEC	blood vessel
49	chr8:103823200-103824000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:103823200-103824000	Flanking Active TSS	HepG2	liver

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