Variant report

Variant	rs4468560
Chromosome Location	chr15:74752353-74752354
allele	A/C
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	ZNF384	chr15:74752156-74752443	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:74740802..74742938-chr15:74751903..74754187,4	K562	blood:
2	chr15:74751132..74753039-chr20:50911439..50913832,2	MCF-7	breast:
3	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
4	chr15:74749825..74755412-chr15:74831975..74836764,7	K562	blood:
5	chr15:74741955..74744869-chr15:74750008..74755464,5	K562	blood:
6	chr15:74751346..74753406-chr15:74872980..74874906,2	K562	blood:
7	chr15:74744211..74746229-chr15:74751385..74754144,2	MCF-7	breast:
8	chr15:74752041..74753655-chr15:74907402..74909986,3	K562	blood:
9	chr15:74751343..74754967-chr15:74831975..74835233,5	K562	blood:
10	chr15:74751774..74754602-chr15:74987400..74989019,2	K562	blood:
11	chr15:74750184..74752405-chr6:26056455..26058439,2	MCF-7	breast:
12	chr15:74751104..74753940-chr15:74907025..74909601,4	MCF-7	breast:

No data

Variant related genes	Relation type
UBL7-AS1	TF binding region
ENSG00000138623	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000179151	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1030889	0.82[ASN][1000 genomes]
rs1078011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851871	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11072488	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072490	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11852291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854025	0.81[AMR][1000 genomes]
rs11854226	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11854461	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11855521	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11856543	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11857328	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12439178	0.83[AMR][1000 genomes]
rs12439505	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12440645	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440654	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591603	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592493	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592512	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12592906	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12594766	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12595017	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909573	0.81[EUR][1000 genomes]
rs16969247	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969393	0.82[ASN][1000 genomes]
rs16969612	0.81[EUR][1000 genomes]
rs1821847	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1866113	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2012008	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2017998	0.81[ASN][1000 genomes]
rs2289187	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289188	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362902	0.82[AMR][1000 genomes]
rs35752918	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3985310	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077703	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4261483	0.80[ASN][1000 genomes]
rs4278699	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4324083	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4369610	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4372642	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4544202	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886599	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4887148	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887149	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4887151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4887152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887153	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4887154	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887155	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55662551	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56367313	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56369998	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57271230	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59946128	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6495101	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495102	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6495103	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495105	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495106	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6495108	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6495109	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7163775	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166656	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7166701	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167655	0.81[EUR][1000 genomes]
rs7169985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7173006	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7176491	0.80[ASN][1000 genomes]
rs7177140	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7178219	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8025655	0.83[ASN][1000 genomes]
rs8029099	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033841	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036030	0.83[ASN][1000 genomes]
rs8037211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037436	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8038730	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8039977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8042832	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:74735200-74752600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:74736000-74752400	Weak transcription	Fetal Brain Male	brain
4	chr15:74737800-74752600	Weak transcription	HUVEC	blood vessel
5	chr15:74741800-74752400	Weak transcription	HMEC	breast
6	chr15:74742000-74752600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:74742800-74752600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:74743000-74752600	Weak transcription	Psoas Muscle	Psoas
9	chr15:74743200-74752600	Weak transcription	Stomach Mucosa	stomach
10	chr15:74743600-74752600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:74743600-74753000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:74744800-74752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:74744800-74752600	Weak transcription	NHLF	lung
14	chr15:74744800-74753000	Weak transcription	Esophagus	oesophagus
15	chr15:74745000-74752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:74745000-74753000	Weak transcription	Aorta	Aorta
17	chr15:74745200-74752400	Weak transcription	Hela-S3	cervix
18	chr15:74746000-74752600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:74746000-74752600	Weak transcription	Colonic Mucosa	Colon
20	chr15:74746000-74752600	Weak transcription	Gastric	stomach
21	chr15:74746400-74752400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:74746600-74752600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:74746600-74752600	Weak transcription	Fetal Heart	heart
24	chr15:74746600-74752600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr15:74746600-74752600	Weak transcription	Osteobl	bone
26	chr15:74746600-74752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:74747000-74752600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:74747200-74752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:74747400-74752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:74747600-74752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:74747800-74752600	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:74747800-74752600	Weak transcription	Fetal Brain Female	brain
33	chr15:74748000-74752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:74748000-74752600	Weak transcription	A549	lung
35	chr15:74748000-74752800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:74748200-74752600	Weak transcription	Fetal Kidney	kidney
37	chr15:74749000-74752400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:74749000-74752600	Weak transcription	HSMM	muscle
39	chr15:74749000-74752600	Weak transcription	HSMMtube	muscle
40	chr15:74749000-74752600	Weak transcription	K562	blood
41	chr15:74749000-74752600	Weak transcription	NHDF-Ad	bronchial
42	chr15:74749000-74752600	Weak transcription	NHEK	skin
43	chr15:74749200-74752400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:74749200-74752400	Weak transcription	Brain Germinal Matrix	brain
45	chr15:74749200-74752600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:74749200-74752600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:74749200-74752600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr15:74749200-74752600	Weak transcription	NH-A	brain
49	chr15:74749400-74752400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:74749400-74752400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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