Variant report

Variant	rs72777814
Chromosome Location	chr10:6151538-6151539
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:16)
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	CTCF	chr10:6150686-6151666	A549	lung:	n/a	chr10:6151067-6151088 chr10:6151065-6151083 chr10:6150867-6150880 chr10:6151066-6151082 chr10:6151121-6151129
2	POLR2A	chr10:6150144-6152357	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6150676..6151669-chr10:6167991..6168860,2	MCF-7	breast:
2	chr10:6149158..6152677-chr10:6155129..6159616,7	K562	blood:
3	chr10:6150963..6151879-chr10:6447834..6448831,2	K562	blood:
4	chr10:6145387..6148219-chr10:6148425..6153843,7	K562	blood:
5	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
6	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
7	chr10:6150598..6153044-chr10:6184117..6186836,2	K562	blood:
8	chr10:6150619..6154043-chr10:6154851..6158352,3	K562	blood:
9	chr10:6129764..6131854-chr10:6149478..6152087,2	MCF-7	breast:
10	chr10:6149255..6151858-chr10:6188263..6190070,3	K562	blood:
11	chr10:6150553..6151547-chr10:6443502..6444434,6	MCF-7	breast:
12	chr10:6149046..6151542-chr10:6153336..6155552,2	MCF-7	breast:
13	chr10:6150489..6151565-chr10:6193116..6194019,6	K562	blood:
14	chr10:6150582..6152965-chr10:6191776..6194691,3	MCF-7	breast:
15	chr10:6150955..6152611-chr10:6185744..6188569,2	MCF-7	breast:
16	chr10:6150645..6151549-chr10:6193064..6193796,3	MCF-7	breast:

No data

Variant related genes	Relation type
RBM17	TF binding region
ENSG00000170525	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11818885	1.00[ASN][1000 genomes]
rs12243993	1.00[ASN][1000 genomes]
rs12250554	1.00[ASN][1000 genomes]
rs12256793	1.00[ASN][1000 genomes]
rs12261272	1.00[ASN][1000 genomes]
rs12722484	1.00[ASN][1000 genomes]
rs12722486	1.00[ASN][1000 genomes]
rs12722505	1.00[ASN][1000 genomes]
rs28360488	1.00[ASN][1000 genomes]
rs28360493	1.00[ASN][1000 genomes]
rs3136615	1.00[ASN][1000 genomes]
rs41294605	1.00[ASN][1000 genomes]
rs41294659	1.00[ASN][1000 genomes]
rs41294663	1.00[ASN][1000 genomes]
rs41294681	1.00[ASN][1000 genomes]
rs41294907	1.00[ASN][1000 genomes]
rs41294937	1.00[ASN][1000 genomes]
rs41295047	1.00[ASN][1000 genomes]
rs41295093	1.00[ASN][1000 genomes]
rs41295115	1.00[ASN][1000 genomes]
rs55998002	1.00[ASN][1000 genomes]
rs56055806	1.00[ASN][1000 genomes]
rs56121791	1.00[ASN][1000 genomes]
rs56249263	1.00[ASN][1000 genomes]
rs58820784	1.00[ASN][1000 genomes]
rs60925594	1.00[ASN][1000 genomes]
rs61551084	1.00[ASN][1000 genomes]
rs61839723	1.00[ASN][1000 genomes]
rs61839726	1.00[ASN][1000 genomes]
rs62626315	1.00[ASN][1000 genomes]
rs62626320	1.00[ASN][1000 genomes]
rs62626323	1.00[ASN][1000 genomes]
rs62626344	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6602502	1.00[ASN][1000 genomes]
rs7893324	1.00[ASN][1000 genomes]
rs7898286	1.00[ASN][1000 genomes]
rs8177586	1.00[ASN][1000 genomes]
rs8177587	1.00[ASN][1000 genomes]
rs8177590	1.00[ASN][1000 genomes]
rs8177600	1.00[ASN][1000 genomes]
rs8177613	1.00[ASN][1000 genomes]
rs8177614	1.00[ASN][1000 genomes]
rs8177631	1.00[ASN][1000 genomes]
rs8177633	1.00[ASN][1000 genomes]
rs8177636	1.00[ASN][1000 genomes]
rs8177694	1.00[ASN][1000 genomes]
rs8177755	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:127 , 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	chr10:6137400-6158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:6138000-6159400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:6138200-6159200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr10:6138400-6152200	Weak transcription	Fetal Brain Male	brain
6	chr10:6138400-6154000	Weak transcription	Small Intestine	intestine
7	chr10:6138800-6152800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:6138800-6159200	Strong transcription	Placenta	Placenta
9	chr10:6138800-6159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:6139000-6154000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:6139000-6156600	Strong transcription	Fetal Muscle Leg	muscle
12	chr10:6139000-6158600	Strong transcription	Fetal Intestine Large	intestine
13	chr10:6139000-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr10:6139200-6156200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:6139200-6156200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:6139200-6156200	Strong transcription	Osteobl	bone
19	chr10:6139200-6156400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:6139600-6155400	Strong transcription	HSMM	muscle
21	chr10:6139600-6156400	Strong transcription	NH-A	brain
22	chr10:6139800-6156200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:6140000-6152000	Weak transcription	Aorta	Aorta
24	chr10:6140000-6155800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:6140000-6162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:6140400-6161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:6142000-6156400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:6142200-6158800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr10:6142200-6159400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:6143200-6159400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr10:6144800-6156400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr10:6145400-6158600	Strong transcription	K562	blood
33	chr10:6145600-6156000	Strong transcription	NHDF-Ad	bronchial
34	chr10:6145600-6156000	Strong transcription	NHLF	lung
35	chr10:6145600-6156400	Strong transcription	Fetal Lung	lung
36	chr10:6146000-6154400	Strong transcription	HepG2	liver
37	chr10:6146000-6156200	Strong transcription	HUVEC	blood vessel
38	chr10:6146200-6154000	Weak transcription	Psoas Muscle	Psoas
39	chr10:6146400-6156400	Strong transcription	Adipose Nuclei	Adipose
40	chr10:6146800-6156800	Strong transcription	Ovary	ovary
41	chr10:6147800-6154200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:6148000-6157600	Strong transcription	Thymus	Thymus
43	chr10:6148000-6158800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:6148000-6159000	Strong transcription	Brain Germinal Matrix	brain
45	chr10:6148200-6156200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr10:6148400-6157600	Strong transcription	Fetal Stomach	stomach
47	chr10:6149000-6155600	Strong transcription	Pancreas	Pancrea
48	chr10:6149000-6157600	Strong transcription	Lung	lung
49	chr10:6149200-6152600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:6149200-6155400	Strong transcription	Fetal Intestine Small	intestine

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