Variant report

Variant	rs73605992
Chromosome Location	chr10:6150562-6150563
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr10:6150507-6150568	K562	blood:	n/a	n/a
2	JUND	chr10:6150519-6151201	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr10:6150553-6151459	HCT-116	colon:	n/a	chr10:6151067-6151088 chr10:6151065-6151083 chr10:6150867-6150880 chr10:6151066-6151082 chr10:6151121-6151129
4	TEAD4	chr10:6150538-6151054	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr10:6150454-6151300	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr10:6150549-6150885	H1-hESC	embryonic stem cell:	n/a	n/a
7	HDAC2	chr10:6150559-6150925	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr10:6150506-6150969	H1-hESC	embryonic stem cell:	n/a	chr10:6150844-6150851
9	SP4	chr10:6150483-6151157	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:6150144-6152357	K562	blood:	n/a	n/a
11	POLR2A	chr10:6150550-6150964	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr10:6150498-6151152	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6149158..6152677-chr10:6155129..6159616,7	K562	blood:
2	chr10:6145387..6148219-chr10:6148425..6153843,7	K562	blood:
3	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
4	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
5	chr10:6129764..6131854-chr10:6149478..6152087,2	MCF-7	breast:
6	chr10:6149255..6151858-chr10:6188263..6190070,3	K562	blood:
7	chr10:6150553..6151547-chr10:6443502..6444434,6	MCF-7	breast:
8	chr10:6150561..6151530-chr10:6447877..6448813,5	MCF-7	breast:
9	chr10:6149046..6151542-chr10:6153336..6155552,2	MCF-7	breast:
10	chr10:6150489..6151565-chr10:6193116..6194019,6	K562	blood:
11	chr10:6149065..6151002-chr10:6243111..6244731,2	K562	blood:

No data

Variant related genes	Relation type
RBM17	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12241939	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544304	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41295353	0.96[ASN][1000 genomes]
rs41295373	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66524564	0.92[ASN][1000 genomes]
rs73605996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6132800-6152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:6136800-6150600	Strong transcription	Fetal Thymus	thymus
3	chr10:6137400-6150600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:6137400-6158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:6138000-6159400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr10:6138200-6150800	Strong transcription	Dnd41	blood
7	chr10:6138200-6159200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:6138400-6150600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:6138400-6151000	Weak transcription	Fetal Heart	heart
10	chr10:6138400-6152200	Weak transcription	Fetal Brain Male	brain
11	chr10:6138400-6154000	Weak transcription	Small Intestine	intestine
12	chr10:6138800-6150600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr10:6138800-6152800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:6138800-6159200	Strong transcription	Placenta	Placenta
15	chr10:6138800-6159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:6139000-6150600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:6139000-6151400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:6139000-6154000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:6139000-6156600	Strong transcription	Fetal Muscle Leg	muscle
20	chr10:6139000-6158600	Strong transcription	Fetal Intestine Large	intestine
21	chr10:6139000-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr10:6139200-6150600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:6139200-6156200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:6139200-6156200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:6139200-6156200	Strong transcription	Osteobl	bone
28	chr10:6139200-6156400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:6139600-6150600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:6139600-6155400	Strong transcription	HSMM	muscle
31	chr10:6139600-6156400	Strong transcription	NH-A	brain
32	chr10:6139800-6156200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:6140000-6151400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:6140000-6152000	Weak transcription	Aorta	Aorta
35	chr10:6140000-6155800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:6140000-6162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:6140400-6161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:6142000-6156400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:6142200-6158800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr10:6142200-6159400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:6142400-6151400	Weak transcription	Colonic Mucosa	Colon
42	chr10:6143200-6159400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr10:6143800-6150800	Strong transcription	GM12878-XiMat	blood
44	chr10:6144800-6156400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr10:6145400-6158600	Strong transcription	K562	blood
46	chr10:6145600-6156000	Strong transcription	NHDF-Ad	bronchial
47	chr10:6145600-6156000	Strong transcription	NHLF	lung
48	chr10:6145600-6156400	Strong transcription	Fetal Lung	lung
49	chr10:6145800-6150800	Strong transcription	Liver	Liver
50	chr10:6146000-6151400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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