Variant report

Variant	rs8042323
Chromosome Location	chr15:74730441-74730442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:74730305-74730687	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:74726148..74727882-chr15:74729706..74732304,2	K562	blood:
2	chr15:74687672..74690218-chr15:74730086..74732383,2	K562	blood:
3	chr15:74671949..74676409-chr15:74729449..74732504,7	MCF-7	breast:
4	chr15:74728845..74731175-chr15:74744571..74747150,2	K562	blood:
5	chr15:74682172..74683884-chr15:74728486..74730542,2	K562	blood:
6	chr15:74668381..74670629-chr15:74728724..74730962,2	MCF-7	breast:
7	chr15:74725927..74727882-chr15:74729102..74731231,3	K562	blood:
8	chr15:74681432..74683884-chr15:74728087..74731216,4	K562	blood:
9	chr15:74727843..74730668-chr15:74907204..74909130,2	K562	blood:
10	chr15:74678696..74681128-chr15:74729698..74732271,2	K562	blood:
11	chr15:74666968..74670060-chr15:74726920..74730762,3	K562	blood:
12	chr15:74724083..74728252-chr15:74730027..74733442,6	MCF-7	breast:

No data

Variant related genes	Relation type
SEMA7A	TF binding region
ENSG00000138629	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000138623	Chromatin interaction
ENSG00000260919	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11072484	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072489	0.81[AFR][1000 genomes]
rs11856543	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12439505	0.81[AFR][1000 genomes]
rs12440645	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12441794	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592493	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12592906	0.81[AFR][1000 genomes]
rs12595017	0.81[AFR][1000 genomes]
rs1866114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992145	0.82[ASN][1000 genomes]
rs2099593	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289187	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2415243	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28362872	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28362901	0.87[AMR][1000 genomes]
rs2899826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35752918	0.80[AFR][1000 genomes]
rs4077703	0.88[AFR][1000 genomes]
rs4548815	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4887145	0.87[AMR][1000 genomes]
rs4887146	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4887153	0.83[AFR][1000 genomes]
rs4887154	0.81[AFR][1000 genomes]
rs55662551	0.81[AFR][1000 genomes]
rs56367313	0.83[AFR][1000 genomes]
rs57271230	0.80[AFR][1000 genomes]
rs6495103	0.85[AFR][1000 genomes]
rs6495104	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6495107	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7161990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7163775	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7166701	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7177140	0.81[AFR][1000 genomes]
rs750608	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8036474	0.84[ASN][1000 genomes]
rs8036616	0.87[AMR][1000 genomes]
rs8041068	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8041121	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	nsv542433	chr15:74714265-74745033	Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv904371	chr15:74719249-74731330	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726200-74736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74726400-74737200	Weak transcription	Hela-S3	cervix
3	chr15:74726800-74730600	Weak transcription	NHEK	skin
4	chr15:74726800-74730800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:74726800-74730800	Weak transcription	HMEC	breast
6	chr15:74726800-74736800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:74726800-74737400	Weak transcription	Esophagus	oesophagus
8	chr15:74726800-74738600	Weak transcription	Fetal Lung	lung
9	chr15:74726800-74740200	Weak transcription	A549	lung
10	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:74727000-74731200	Enhancers	K562	blood
12	chr15:74727000-74734400	Weak transcription	Pancreas	Pancrea
13	chr15:74727000-74736600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:74727000-74736600	Weak transcription	Right Atrium	heart
15	chr15:74727000-74736800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:74727000-74736800	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:74727000-74737400	Weak transcription	Lung	lung
18	chr15:74727000-74737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:74727200-74730600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:74727200-74730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:74727200-74730800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:74727200-74731200	Weak transcription	HSMMtube	muscle
23	chr15:74727200-74735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:74727200-74735200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:74727200-74735400	Weak transcription	Brain Anterior Caudate	brain
26	chr15:74727200-74735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:74727200-74736600	Weak transcription	Primary T cells from cord blood	blood
28	chr15:74727200-74736600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:74727200-74736800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:74727200-74736800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:74727200-74737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:74727200-74737200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:74727200-74737200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:74727200-74737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:74727200-74740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:74727200-74747200	Weak transcription	NHDF-Ad	bronchial
37	chr15:74727400-74730800	Weak transcription	HSMM	muscle
38	chr15:74727400-74734800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:74727400-74734800	Weak transcription	Osteobl	bone
40	chr15:74727400-74735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr15:74727400-74736800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:74727400-74737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:74727600-74730600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:74727600-74730600	Weak transcription	HepG2	liver
45	chr15:74727600-74730800	Weak transcription	Dnd41	blood
46	chr15:74727600-74733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:74727600-74735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:74727600-74737000	Weak transcription	Brain Germinal Matrix	brain
49	chr15:74727600-74737200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:74727600-74739400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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