Variant report

Variant	rs72915136
Chromosome Location	chr1:63157628-63157629
allele	G/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	ZNF384	chr1:63157586-63157744	K562	blood:	n/a	n/a
2	POLR2A	chr1:63155125-63157751	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63156083..63158075-chr1:63158423..63161249,2	K562	blood:
2	chr1:63156575..63159018-chr1:63159130..63161249,2	K562	blood:

Variant related genes	Relation type
DOCK7	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17123771	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58433878	1.00[AMR][1000 genomes]
rs61743961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676546	0.83[AMR][1000 genomes]
rs72915113	0.89[AFR][1000 genomes]
rs72915127	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915134	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533847	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63154800-63157800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:63154800-63157800	Enhancers	Liver	Liver
3	chr1:63154800-63157800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:63154800-63158400	Enhancers	Fetal Intestine Large	intestine
5	chr1:63155600-63157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:63155600-63157800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:63155600-63157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:63155800-63158400	Enhancers	Stomach Mucosa	stomach
9	chr1:63155800-63165000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:63156200-63158200	Flanking Active TSS	HepG2	liver
11	chr1:63156400-63158000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:63156400-63159400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:63156400-63170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:63156600-63158200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:63156600-63159800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:63156600-63160000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:63156600-63170400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:63156800-63159800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:63156800-63160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:63156800-63160400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:63156800-63160400	Weak transcription	Gastric	stomach
22	chr1:63156800-63161400	Weak transcription	Fetal Brain Female	brain
23	chr1:63157000-63158000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:63157000-63159000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:63157000-63159600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:63157000-63160600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:63157200-63160400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:63157200-63161000	Weak transcription	Fetal Lung	lung
29	chr1:63157400-63158200	Enhancers	Fetal Intestine Small	intestine
30	chr1:63157400-63158800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:63157400-63158800	Weak transcription	NHEK	skin
32	chr1:63157400-63161200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:63157400-63170400	Weak transcription	Fetal Stomach	stomach
34	chr1:63157600-63157800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:63157600-63158200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:63157600-63158600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:63157600-63158800	Weak transcription	HMEC	breast
38	chr1:63157600-63160600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:63157600-63173000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:63157600-63180800	Weak transcription	Fetal Brain Male	brain

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