Variant report

Variant	rs7951732
Chromosome Location	chr11:67119088-67119089
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:25)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67118383..67119258-chr11:67149650..67150647,5	MCF-7	breast:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
3	chr11:66823198..66824967-chr11:67118619..67120414,2	MCF-7	breast:
4	chr11:67116311..67119142-chr11:67396400..67398010,2	K562	blood:
5	chr11:67118736..67119316-chr11:67149751..67150333,3	K562	blood:
6	chr11:67116759..67119285-chr11:67234145..67237913,5	MCF-7	breast:
7	chr11:67110615..67115387-chr11:67116003..67119509,5	K562	blood:
8	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
9	chr11:67069460..67071861-chr11:67118830..67121727,4	MCF-7	breast:
10	chr11:67074129..67076451-chr11:67118933..67121645,2	MCF-7	breast:
11	chr11:67032220..67037816-chr11:67117433..67120468,5	K562	blood:
12	chr11:67101525..67102192-chr11:67118363..67119277,2	K562	blood:
13	chr11:67118066..67122624-chr11:67272137..67276691,11	MCF-7	breast:
14	chr11:67117611..67120390-chr11:67273678..67275891,4	MCF-7	breast:
15	chr11:67030115..67032131-chr11:67117040..67120376,3	K562	blood:
16	chr11:67117328..67119147-chr11:67188918..67191824,2	K562	blood:
17	chr11:67118410..67119365-chr11:67149709..67150673,6	MCF-7	breast:
18	chr11:67118624..67119311-chr11:67137860..67138596,2	K562	blood:
19	chr11:67119033..67122416-chr11:67186034..67189246,4	K562	blood:
20	chr11:66823856..66826117-chr11:67119023..67120687,3	MCF-7	breast:
21	chr11:67033707..67034241-chr11:67118426..67119286,2	K562	blood:
22	chr11:67006145..67008977-chr11:67116331..67119546,3	MCF-7	breast:
23	chr11:67116454..67122701-chr11:67156914..67162562,7	K562	blood:
24	chr11:67006044..67008912-chr11:67118920..67122236,4	K562	blood:
25	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLCF1-1	chr11:67119019-67119490	NONHSAT022401
2	lnc-CLCF1-1	chr11:67119024-67120548	NONHSAT022402
3	lnc-CLCF1-1	chr11:67119036-67120548	NONHSAT022403

No data

Variant related genes	Relation type
ENSG00000172830	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11827012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364251	1.00[AMR][1000 genomes]
rs7938577	0.93[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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7951732	POLD4	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
2	chr11:67113200-67119200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:67113800-67120000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:67114000-67120000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:67114000-67120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:67115800-67120000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:67116600-67120000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:67117200-67120000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:67117600-67120200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:67117800-67120000	Weak transcription	Small Intestine	intestine
11	chr11:67118200-67119600	Enhancers	Gastric	stomach
12	chr11:67118400-67119200	Genic enhancers	Fetal Intestine Large	intestine
13	chr11:67118400-67119400	Genic enhancers	Esophagus	oesophagus
14	chr11:67118400-67119400	Genic enhancers	Fetal Stomach	stomach
15	chr11:67118400-67120000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:67118400-67120000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:67118400-67120000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:67118400-67120000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:67118400-67120000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:67118400-67120000	Enhancers	Placenta	Placenta
21	chr11:67118400-67120000	Enhancers	Pancreas	Pancrea
22	chr11:67118600-67119200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:67118600-67119200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:67118600-67119200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr11:67118600-67119200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr11:67118600-67119200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:67118600-67119400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:67118600-67119400	Genic enhancers	Primary T cells from cord blood	blood
29	chr11:67118600-67119400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:67118600-67119400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:67118600-67119400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:67118600-67119400	Enhancers	Aorta	Aorta
33	chr11:67118600-67119400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr11:67118600-67119400	Genic enhancers	Fetal Muscle Leg	muscle
35	chr11:67118600-67119400	Genic enhancers	Fetal Thymus	thymus
36	chr11:67118600-67119400	Enhancers	Ovary	ovary
37	chr11:67118600-67119400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
38	chr11:67118600-67119400	Enhancers	Right Atrium	heart
39	chr11:67118600-67119400	Genic enhancers	Dnd41	blood
40	chr11:67118600-67119400	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:67118600-67119400	Enhancers	HepG2	liver
42	chr11:67118600-67119400	Genic enhancers	NHEK	skin
43	chr11:67118600-67119600	Genic enhancers	Spleen	Spleen
44	chr11:67118600-67120000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:67118600-67120000	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:67118600-67120000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:67118600-67120000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:67118600-67120000	Enhancers	Adipose Nuclei	Adipose
49	chr11:67118600-67120000	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:67118600-67120000	Enhancers	Duodenum Smooth Muscle	Duodenum

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