Variant report

Variant	rs10136833
Chromosome Location	chr14:69401094-69401095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69400782-69401206	U87	brain:	n/a	n/a
2	CTCF	chr14:69401080-69401230	HPF	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69398400..69399960-chr14:69400937..69403157,2	MCF-7	breast:
2	chr14:69398472..69402784-chr14:69442445..69448091,6	MCF-7	breast:
3	chr14:69393526..69396798-chr14:69399350..69401820,3	K562	blood:
4	chr14:69390024..69391757-chr14:69399929..69402597,2	MCF-7	breast:
5	chr14:69396044..69397860-chr14:69399942..69402928,2	MCF-7	breast:
6	chr14:69398641..69402402-chr14:69406063..69410861,5	MCF-7	breast:
7	chr14:69392677..69394471-chr14:69400892..69402453,2	MCF-7	breast:

No data

Variant related genes	Relation type
BANF1P1	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10130940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135072	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs10136928	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147838	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220358	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220562	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101054	0.85[JPT][hapmap]
rs12434957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194718	0.85[JPT][hapmap]
rs2093010	0.85[JPT][hapmap]
rs2273419	0.85[JPT][hapmap]
rs28488011	0.86[AFR][1000 genomes]
rs56998257	0.81[AFR][1000 genomes]
rs73288945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74059828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743127	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
2	chr14:69372400-69404400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:69378800-69402400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:69385600-69402800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:69387000-69402600	Weak transcription	K562	blood
6	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:69387800-69405600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:69389600-69404400	Weak transcription	Psoas Muscle	Psoas
9	chr14:69390000-69402200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:69390000-69404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:69390200-69402400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:69391800-69403600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:69392400-69404400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:69392400-69404400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:69392800-69406200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:69393400-69404200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:69393400-69404400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:69393600-69406400	Weak transcription	Hela-S3	cervix
19	chr14:69393800-69401200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:69393800-69404400	Weak transcription	Thymus	Thymus
21	chr14:69393800-69405000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:69393800-69405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:69394000-69404400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:69394200-69422200	Weak transcription	Dnd41	blood
25	chr14:69395200-69401800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69395200-69402600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:69395200-69403800	Weak transcription	Fetal Intestine Large	intestine
28	chr14:69395400-69402600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:69395400-69405000	Weak transcription	Fetal Kidney	kidney
30	chr14:69395600-69402400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:69395600-69402400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:69395600-69404600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:69396200-69401600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:69396200-69402400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:69396200-69403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:69396200-69408800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:69396400-69402400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:69396400-69409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:69396600-69402400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:69396600-69402400	Weak transcription	Lung	lung
41	chr14:69396600-69402400	Weak transcription	Ovary	ovary
42	chr14:69396600-69403400	Weak transcription	Colonic Mucosa	Colon
43	chr14:69396800-69401400	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:69396800-69401800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:69397000-69401400	Genic enhancers	Primary T cells from cord blood	blood
46	chr14:69397000-69401600	Weak transcription	Liver	Liver
47	chr14:69397400-69402400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:69397600-69401600	Strong transcription	Fetal Intestine Small	intestine
49	chr14:69397600-69406400	Genic enhancers	HMEC	breast
50	chr14:69397800-69404800	Genic enhancers	HSMM	muscle

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