Variant report

Variant	rs1599793
Chromosome Location	chr7:112727184-112727185
allele	C/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	EP300	chr7:112727108-112727914	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:112726439-112728146	SK-N-SH	brain:	n/a	n/a
3	ZC3H11A	chr7:112726692-112727212	K562	blood:	n/a	n/a
4	IRF1	chr7:112726174-112728305	K562	blood:	n/a	chr7:112727424-112727438 chr7:112727424-112727437
5	PML	chr7:112727100-112728186	K562	blood:	n/a	n/a
6	GATA3	chr7:112727054-112728298	SK-N-SH	brain:	n/a	chr7:112727923-112727931 chr7:112727924-112727931 chr7:112727925-112727942 chr7:112727921-112727931
7	MYC	chr7:112726580-112728261	K562	blood:	n/a	chr7:112726902-112726912 chr7:112726898-112726908
8	REST	chr7:112723245-112728173	H1-neurons	neurons:	n/a	chr7:112726833-112726847 chr7:112726902-112726915
9	FOS	chr7:112727054-112727984	MCF10A-Er-Src	breast:	n/a	chr7:112727855-112727864
10	POLR2A	chr7:112727068-112728056	H1-neurons	neurons:	n/a	n/a
11	MXI1	chr7:112725259-112728607	SK-N-SH	brain:	n/a	n/a
12	MYC	chr7:112727008-112727983	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT5A	chr7:112727079-112727555	K562	blood:	n/a	chr7:112727425-112727436
14	NRF1	chr7:112727133-112727198	K562	blood:	n/a	n/a
15	POLR2A	chr7:112727120-112728171	H1-neurons	neurons:	n/a	n/a
16	STAT3	chr7:112726786-112727518	MCF10A-Er-Src	breast:	n/a	chr7:112726915-112726924 chr7:112726916-112726924 chr7:112727425-112727436 chr7:112726914-112726925 chr7:112726875-112726882 chr7:112726916-112726925
17	MYC	chr7:112726665-112728276	K562	blood:	n/a	chr7:112726902-112726912 chr7:112726898-112726908
18	USF1	chr7:112727111-112727745	SK-N-SH	brain:	n/a	n/a
19	STAT3	chr7:112726900-112727442	MCF10A-Er-Src	breast:	n/a	chr7:112726915-112726924 chr7:112726916-112726924 chr7:112727425-112727436 chr7:112726914-112726925 chr7:112726916-112726925
20	CEBPD	chr7:112727157-112728155	K562	blood:	n/a	n/a
21	POLR2A	chr7:112727067-112728098	U87	brain:	n/a	n/a
22	RCOR1	chr7:112725762-112728325	K562	blood:	n/a	n/a
23	FOSL2	chr7:112726977-112727810	SK-N-SH	brain:	n/a	n/a
24	TEAD4	chr7:112727119-112727959	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr7:112727067-112728092	U87	brain:	n/a	n/a
26	GATA3	chr7:112727074-112728519	SK-N-SH	brain:	n/a	chr7:112727923-112727931 chr7:112727924-112727931 chr7:112727925-112727942 chr7:112727921-112727931
27	MAX	chr7:112726556-112727775	SK-N-SH	brain:	n/a	chr7:112726902-112726912 chr7:112726898-112726908
28	TEAD4	chr7:112725724-112728342	K562	blood:	n/a	chr7:112728159-112728168
29	FOS	chr7:112727054-112727459	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr7:112726416-112727766	IMR90	lung:	n/a	n/a
31	BHLHE40	chr7:112726120-112727994	K562	blood:	n/a	n/a
32	POLR2A	chr7:112727098-112727474	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr7:112727135-112727970	U87	brain:	n/a	n/a
34	TAF1	chr7:112727040-112727674	SK-N-SH	brain:	n/a	n/a
35	TBP	chr7:112726014-112728059	K562	blood:	n/a	n/a
36	RFX5	chr7:112724778-112728809	SK-N-SH	brain:	n/a	chr7:112727854-112727863
37	FOS	chr7:112727105-112727306	MCF10A-Er-Src	breast:	n/a	n/a
38	NRF1	chr7:112725709-112728173	SK-N-SH	brain:	n/a	chr7:112726541-112726550 chr7:112726539-112726550 chr7:112726539-112726550 chr7:112726539-112726553 chr7:112726536-112726550
39	PBX3	chr7:112727036-112728560	SK-N-SH	brain:	n/a	chr7:112727854-112727863 chr7:112728101-112728112
40	STAT3	chr7:112726786-112727520	MCF10A-Er-Src	breast:	n/a	chr7:112726915-112726924 chr7:112726916-112726924 chr7:112727425-112727436 chr7:112726914-112726925 chr7:112726875-112726882 chr7:112726916-112726925
41	STAT3	chr7:112726772-112727390	MCF10A-Er-Src	breast:	n/a	chr7:112726915-112726924 chr7:112726916-112726924 chr7:112726914-112726925 chr7:112726875-112726882 chr7:112726916-112726925
42	MYC	chr7:112726596-112728195	NB4	blood:	n/a	chr7:112726902-112726912 chr7:112726898-112726908

No.	Distal block	Cell Line	Cell type
1	chr7:112723161..112726364-chr7:112726656..112729737,3	K562	blood:
2	chr7:112725765..112728466-chr7:112738917..112741049,2	K562	blood:
3	chr7:112725230..112728019-chr7:112757874..112760567,2	K562	blood:

Variant related genes	Relation type
GPR85	TF binding region
ENSG00000225457	Chromatin interaction
ENSG00000164604	Chromatin interaction
ENSG00000214194	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1008056	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1013638	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10228566	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10232914	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10241909	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10245805	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10246011	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10246012	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10257270	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10267369	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10269536	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10278935	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10280900	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386568	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575013	0.97[ASN][1000 genomes]
rs1590155	0.94[ASN][1000 genomes]
rs1599792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599794	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1807909	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2140913	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245834	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245985	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2249253	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2249501	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2249511	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2249612	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2264731	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28658090	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55822923	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55836916	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56182321	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56202345	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56311133	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56408134	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73198873	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73198882	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7803528	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9656199	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9656200	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv889057	chr7:112652854-112734225	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv889058	chr7:112652854-112737222	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112721200-112727800	Active TSS	Brain Anterior Caudate	brain
2	chr7:112721200-112728000	Active TSS	Brain Angular Gyrus	brain
3	chr7:112722400-112727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:112724400-112727800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:112724600-112727800	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:112724600-112728000	Active TSS	Fetal Brain Male	brain
7	chr7:112724800-112727800	Active TSS	Fetal Brain Female	brain
8	chr7:112725400-112727200	Active TSS	Osteobl	bone
9	chr7:112725400-112727800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:112725400-112727800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:112725600-112727600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr7:112725600-112727600	Active TSS	Placenta	Placenta
13	chr7:112725600-112727600	Active TSS	Right Atrium	heart
14	chr7:112725600-112727800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:112725600-112728000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:112725600-112728200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:112725600-112728200	Active TSS	Aorta	Aorta
18	chr7:112725800-112727200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr7:112725800-112727600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:112725800-112727800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:112725800-112727800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
22	chr7:112725800-112727800	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:112726000-112727200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:112726000-112727200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr7:112726000-112727400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
26	chr7:112726000-112727600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr7:112726000-112727600	Active TSS	Brain Substantia Nigra	brain
28	chr7:112726000-112727600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:112726000-112727800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:112726000-112727800	Active TSS	Brain Germinal Matrix	brain
31	chr7:112726000-112727800	Active TSS	Brain Hippocampus Middle	brain
32	chr7:112726000-112727800	Active TSS	Fetal Muscle Trunk	muscle
33	chr7:112726000-112727800	Active TSS	HSMMtube	muscle
34	chr7:112726000-112727800	Active TSS	NHLF	lung
35	chr7:112726000-112728000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:112726200-112727200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr7:112726200-112727200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr7:112726400-112727200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:112726400-112727200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:112726400-112727200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:112726400-112727200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:112726400-112727200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr7:112726400-112727200	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:112726400-112727200	Active TSS	K562	blood
45	chr7:112726400-112727400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:112726400-112727400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:112726400-112727400	Active TSS	Fetal Lung	lung
48	chr7:112726400-112727600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:112726400-112727600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:112726400-112727600	Active TSS	Duodenum Mucosa	Duodenum

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