Variant report

Variant	rs8102859
Chromosome Location	chr19:44615146-44615147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:44615060-44615210	GM06990	blood:	n/a	n/a
2	CTCF	chr19:44615020-44615170	GM06990	blood:	n/a	n/a
3	CTCF	chr19:44615060-44615210	AoAF	blood vessel:	n/a	n/a
4	CTCF	chr19:44615020-44615170	HCT-116	colon:	n/a	n/a
5	CTCF	chr19:44615000-44615150	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:44614905-44615234	HepG2	liver:	n/a	n/a
7	CTCF	chr19:44615040-44615190	HCFaa	heart:	n/a	n/a
8	CTCF	chr19:44615000-44615150	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr19:44615040-44615190	GM12869	blood:	n/a	n/a
10	CTCF	chr19:44615060-44615210	HepG2	liver:	n/a	n/a
11	CTCF	chr19:44615080-44615230	HEK293	kidney:	n/a	n/a
12	CTCF	chr19:44615040-44615190	HPF	lung:	n/a	n/a
13	POLR2A	chr19:44615062-44616349	K562	blood:	n/a	n/a
14	CTCF	chr19:44615060-44615210	GM12871	blood:	n/a	n/a
15	CTCF	chr19:44615060-44615210	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr19:44615080-44615230	GM12874	blood:	n/a	n/a
17	CTCF	chr19:44615040-44615190	GM12867	blood:	n/a	n/a
18	CTCF	chr19:44615060-44615210	GM12873	blood:	n/a	n/a
19	CTCF	chr19:44615000-44615150	BE2_C	brain:	n/a	n/a
20	CTCF	chr19:44615040-44615190	K562	blood:	n/a	n/a
21	POLR2A	chr19:44614366-44617257	K562	blood:	n/a	n/a
22	CTCF	chr19:44615060-44615210	GM12870	blood:	n/a	n/a
23	CTCF	chr19:44615020-44615170	HAc	cerebellar:	n/a	n/a
24	CTCF	chr19:44615080-44615230	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr19:44615080-44615230	GM12872	blood:	n/a	n/a
26	POLR2A	chr19:44615113-44615436	GM12878	blood:	n/a	n/a
27	CTCF	chr19:44615080-44615230	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr19:44615060-44615210	HMF	breast:	n/a	n/a
29	CTCF	chr19:44615060-44615210	GM12865	blood:	n/a	n/a
30	CTCF	chr19:44615020-44615170	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr19:44615100-44615250	A549	lung:	n/a	n/a
32	CTCF	chr19:44615060-44615210	HEK293	kidney:	n/a	n/a
33	CTCF	chr19:44615040-44615190	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:44615080-44615230	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr19:44615060-44615210	GM12872	blood:	n/a	n/a
36	CTCF	chr19:44615020-44615170	GM12868	blood:	n/a	n/a
37	CTCF	chr19:44615100-44615250	GM12866	blood:	n/a	n/a
38	CTCF	chr19:44615020-44615170	GM12873	blood:	n/a	n/a
39	CTCF	chr19:44615040-44615190	BE2_C	brain:	n/a	n/a
40	CTCF	chr19:44615060-44615210	BJ	skin:	n/a	n/a
41	CTCF	chr19:44615080-44615230	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr19:44615020-44615170	GM12865	blood:	n/a	n/a
43	ZNF143	chr19:44615076-44615186	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr19:44615000-44615150	SAEC	small airway:	n/a	n/a
45	CTCF	chr19:44615020-44615170	RPTEC	kidney:	n/a	n/a
46	CTCF	chr19:44615020-44615170	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44603386..44606385-chr19:44614662..44617472,2	K562	blood:

No data

Variant related genes	Relation type
ZNF225	TF binding region
ENSG00000267163	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10164312	1.00[EUR][1000 genomes]
rs10164320	1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10409475	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	1.00[EUR][1000 genomes]
rs11878320	1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11881355	1.00[EUR][1000 genomes]
rs11882281	1.00[EUR][1000 genomes]
rs11883048	1.00[EUR][1000 genomes]
rs11883052	1.00[EUR][1000 genomes]
rs12983129	1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	1.00[EUR][1000 genomes]
rs57956437	1.00[EUR][1000 genomes]
rs58056761	1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[EUR][1000 genomes]
rs60064087	1.00[EUR][1000 genomes]
rs60833312	1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	1.00[EUR][1000 genomes]
rs7254182	1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	1.00[EUR][1000 genomes]
rs73556279	1.00[EUR][1000 genomes]
rs73556299	1.00[EUR][1000 genomes]
rs73558203	1.00[EUR][1000 genomes]
rs73558209	1.00[EUR][1000 genomes]
rs73558211	1.00[EUR][1000 genomes]
rs73558215	1.00[EUR][1000 genomes]
rs73558217	1.00[EUR][1000 genomes]
rs73558221	1.00[EUR][1000 genomes]
rs73558222	1.00[EUR][1000 genomes]
rs73558227	1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	1.00[EUR][1000 genomes]
rs73558264	1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	1.00[EUR][1000 genomes]
rs8100906	1.00[EUR][1000 genomes]
rs8100990	1.00[EUR][1000 genomes]
rs8101607	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44600400-44616200	ZNF genes & repeats	Liver	Liver
2	chr19:44604800-44616000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44606600-44616400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:44608200-44615800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:44608400-44616000	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:44608600-44615800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr19:44612000-44616200	Weak transcription	HepG2	liver
8	chr19:44612200-44616000	Weak transcription	Fetal Thymus	thymus
9	chr19:44612400-44615200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:44612400-44616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:44612400-44616000	Weak transcription	Pancreas	Pancrea
12	chr19:44612400-44616200	Weak transcription	Gastric	stomach
13	chr19:44612400-44616400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:44612600-44615600	Weak transcription	HSMMtube	muscle
15	chr19:44612600-44615800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:44612600-44616000	Weak transcription	Placenta	Placenta
17	chr19:44612800-44615400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:44612800-44615600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:44612800-44615600	Weak transcription	NHDF-Ad	bronchial
20	chr19:44612800-44615800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:44612800-44615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:44612800-44615800	Weak transcription	NHEK	skin
23	chr19:44612800-44615800	Weak transcription	Osteobl	bone
24	chr19:44612800-44616000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:44612800-44616000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:44612800-44616200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:44612800-44616200	Weak transcription	Ovary	ovary
28	chr19:44612800-44616200	Weak transcription	Thymus	Thymus
29	chr19:44612800-44617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:44613000-44615200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:44613000-44615800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:44613000-44616000	Weak transcription	Brain Angular Gyrus	brain
33	chr19:44613000-44616000	Weak transcription	Fetal Kidney	kidney
34	chr19:44613200-44615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:44613200-44615800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:44613600-44615600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:44613800-44615200	Strong transcription	HSMM	muscle
38	chr19:44614000-44615600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:44614200-44615400	Weak transcription	Dnd41	blood
40	chr19:44614400-44615400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:44614400-44616000	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr19:44614400-44616000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:44614600-44615600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:44614600-44615600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:44614600-44615600	Weak transcription	Fetal Brain Male	brain
46	chr19:44614600-44615800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:44614600-44615800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:44614800-44615400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:44614800-44615800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:44614800-44616000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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