Variant report

Variant	rs41295145
Chromosome Location	chr10:6143178-6143179
allele	A/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	USF1	chr10:6143163-6143500	H1-hESC	embryonic stem cell:	n/a	n/a
2	POU2F2	chr10:6143171-6143507	GM12878	blood:	n/a	chr10:6143399-6143421 chr10:6143402-6143417 chr10:6143405-6143415 chr10:6143404-6143414 chr10:6143404-6143414 chr10:6143405-6143416 chr10:6143406-6143414 chr10:6143400-6143421
3	MAX	chr10:6143118-6143538	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:6143081-6143485	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:6143164-6143495	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6142337..6144041-chr10:6149736..6151744,2	K562	blood:
2	chr10:6131191..6133625-chr10:6141662..6146133,5	K562	blood:
3	chr10:6131418..6133941-chr10:6140772..6145305,6	K562	blood:
4	chr10:6138326..6141317-chr10:6141669..6144082,3	K562	blood:
5	chr10:6142377..6145249-chr10:6240299..6242424,2	MCF-7	breast:
6	chr10:6136416..6140351-chr10:6142582..6146413,4	K562	blood:
7	chr10:6134145..6135760-chr10:6141519..6143845,2	MCF-7	breast:
8	chr10:6138392..6140108-chr10:6142529..6144130,2	MCF-7	breast:
9	chr10:6143166..6145739-chr10:6245064..6246579,2	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12569573	1.00[AFR][1000 genomes]
rs12569593	1.00[AFR][1000 genomes]
rs12572456	1.00[AFR][1000 genomes]
rs12573360	1.00[AFR][1000 genomes]
rs12573756	1.00[AFR][1000 genomes]
rs12573767	1.00[AFR][1000 genomes]
rs3750668	0.88[AMR][1000 genomes]
rs3750670	0.89[AMR][1000 genomes]
rs3814193	1.00[AFR][1000 genomes]
rs3814194	1.00[AFR][1000 genomes]
rs41260244	0.96[EUR][1000 genomes]
rs41295131	1.00[EUR][1000 genomes]
rs41295137	1.00[EUR][1000 genomes]
rs41295141	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41295155	1.00[EUR][1000 genomes]
rs41295357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72478270	1.00[AFR][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	chr10:6132800-6143200	Weak transcription	HSMMtube	muscle
2	chr10:6132800-6145600	Weak transcription	Fetal Kidney	kidney
3	chr10:6132800-6150400	Weak transcription	Stomach Mucosa	stomach
4	chr10:6132800-6152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:6133800-6149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:6134000-6149800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:6136800-6150600	Strong transcription	Fetal Thymus	thymus
8	chr10:6137400-6145200	Strong transcription	Fetal Intestine Small	intestine
9	chr10:6137400-6150600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:6137400-6158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:6137800-6144200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr10:6137800-6144600	Strong transcription	K562	blood
13	chr10:6137800-6150400	Strong transcription	Primary B cells from cord blood	blood
14	chr10:6138000-6143600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr10:6138000-6159400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr10:6138200-6146000	Strong transcription	Thymus	Thymus
17	chr10:6138200-6150400	Strong transcription	Primary T cells from cord blood	blood
18	chr10:6138200-6150800	Strong transcription	Dnd41	blood
19	chr10:6138200-6159200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr10:6138400-6143200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:6138400-6143400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:6138400-6144200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:6138400-6145600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:6138400-6145800	Weak transcription	Psoas Muscle	Psoas
25	chr10:6138400-6146800	Weak transcription	Ovary	ovary
26	chr10:6138400-6150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr10:6138400-6150400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:6138400-6150600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:6138400-6151000	Weak transcription	Fetal Heart	heart
30	chr10:6138400-6152200	Weak transcription	Fetal Brain Male	brain
31	chr10:6138400-6154000	Weak transcription	Small Intestine	intestine
32	chr10:6138600-6144200	Weak transcription	Fetal Brain Female	brain
33	chr10:6138600-6145600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr10:6138800-6150200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:6138800-6150400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr10:6138800-6150600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr10:6138800-6152800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:6138800-6159200	Strong transcription	Placenta	Placenta
39	chr10:6138800-6159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:6139000-6143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:6139000-6145200	Strong transcription	Brain Substantia Nigra	brain
42	chr10:6139000-6146000	Strong transcription	Colon Smooth Muscle	Colon
43	chr10:6139000-6147000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:6139000-6148800	Strong transcription	A549	lung
45	chr10:6139000-6150200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:6139000-6150400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:6139000-6150400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:6139000-6150600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:6139000-6151400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:6139000-6154000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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