Variant report

Variant	rs17065070
Chromosome Location	chr13:76377810-76377811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:76377701-76377981	SK-N-SH	brain:	n/a	n/a
2	CTBP2	chr13:76377215-76377831	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LMO7	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11842375	0.86[AFR][1000 genomes]
rs17065048	1.00[AFR][1000 genomes]
rs17065058	1.00[AFR][1000 genomes]
rs17065062	1.00[AFR][1000 genomes]
rs17065073	1.00[AFR][1000 genomes]
rs9600547	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
3	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:76366400-76380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76366800-76379400	Weak transcription	Pancreas	Pancrea
6	chr13:76366800-76379400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:76366800-76380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:76366800-76380200	Weak transcription	Lung	lung
9	chr13:76367000-76379800	Weak transcription	Brain Angular Gyrus	brain
10	chr13:76367000-76380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:76367000-76387000	Weak transcription	Ovary	ovary
12	chr13:76367400-76380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:76367400-76384400	Weak transcription	Fetal Lung	lung
14	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
15	chr13:76370800-76378800	Genic enhancers	Osteobl	bone
16	chr13:76370800-76382400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:76371400-76379000	Weak transcription	Placenta	Placenta
18	chr13:76372000-76379600	Weak transcription	Colonic Mucosa	Colon
19	chr13:76372200-76378400	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:76372400-76380200	Weak transcription	Gastric	stomach
21	chr13:76373000-76414600	Weak transcription	HMEC	breast
22	chr13:76373200-76379000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:76373200-76385800	Strong transcription	Hela-S3	cervix
24	chr13:76373400-76380800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:76373400-76387200	Weak transcription	Psoas Muscle	Psoas
26	chr13:76374400-76380200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:76374600-76380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:76374800-76380600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr13:76374800-76382400	Strong transcription	Liver	Liver
30	chr13:76375000-76379400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:76375200-76378200	Weak transcription	Aorta	Aorta
32	chr13:76375200-76383000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:76375400-76378400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:76375400-76379600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:76375600-76378800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:76375600-76378800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr13:76375800-76382600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:76376000-76378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:76376000-76378600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr13:76376200-76380800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr13:76376400-76378000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr13:76376600-76378200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr13:76376600-76378200	Enhancers	Fetal Thymus	thymus
44	chr13:76376600-76378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr13:76376600-76378400	Enhancers	Fetal Brain Male	brain
46	chr13:76376800-76378200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr13:76376800-76378800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:76376800-76380200	Weak transcription	Esophagus	oesophagus
49	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr13:76377000-76378000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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