Variant report

Variant	rs7256200
Chromosome Location	chr19:45415935-45415936
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:45415880-45416030	HA-sp	spinal cord:	n/a	n/a
2	CTCF	chr19:45415860-45416010	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr19:45415920-45416070	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr19:45415880-45416030	AG04449	skin:	n/a	n/a
5	CTCF	chr19:45415920-45416170	K562	blood:	n/a	n/a
6	CTCF	chr19:45415920-45416070	HMF	breast:	n/a	n/a
7	CTCF	chr19:45415840-45415990	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr19:45415860-45416010	GM12868	blood:	n/a	n/a
9	CTCF	chr19:45415900-45416050	HepG2	liver:	n/a	n/a
10	CTCF	chr19:45415880-45416030	GM12874	blood:	n/a	n/a
11	CTCF	chr19:45415920-45416070	HEK293	kidney:	n/a	n/a
12	CTCF	chr19:45415920-45416070	HPF	lung:	n/a	n/a
13	CTCF	chr19:45415880-45416030	HCM	heart:	n/a	n/a
14	CTCF	chr19:45415840-45415990	HPAF	blood vessel:	n/a	n/a
15	POLR2A	chr19:45415885-45416607	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45414650..45417775-chr19:45455378..45459435,4	K562	blood:
2	chr19:45415569..45417963-chr19:45443014..45445506,2	K562	blood:
3	chr19:45347815..45349366-chr19:45415234..45417056,2	K562	blood:

No data

Variant related genes	Relation type
APOC1	TF binding region
ENSG00000104853	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000267467	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10414043	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12721046	0.94[ASN][1000 genomes]
rs12721051	0.93[ASN][1000 genomes]
rs4420638	0.93[ASN][1000 genomes]
rs56131196	0.93[ASN][1000 genomes]
rs73052335	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs769449	0.93[EUR][1000 genomes];0.83[ASN][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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45410000-45417400	Weak transcription	Fetal Heart	heart
2	chr19:45410000-45417400	Weak transcription	Pancreas	Pancrea
3	chr19:45410200-45417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:45412000-45416800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:45412600-45417400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:45412600-45418000	Enhancers	Fetal Muscle Leg	muscle
7	chr19:45412800-45416200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:45412800-45417400	Enhancers	Fetal Muscle Trunk	muscle
9	chr19:45412800-45417600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:45413000-45417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:45413200-45416800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr19:45413200-45417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:45413400-45416600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:45413400-45417600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr19:45414000-45416800	Enhancers	K562	blood
16	chr19:45414000-45417400	Enhancers	Placenta	Placenta
17	chr19:45414200-45416400	Enhancers	NHLF	lung
18	chr19:45414200-45416600	Enhancers	Ovary	ovary
19	chr19:45414200-45416600	Enhancers	HSMM	muscle
20	chr19:45414200-45416800	Enhancers	Fetal Lung	lung
21	chr19:45414200-45417400	Enhancers	Brain Angular Gyrus	brain
22	chr19:45414200-45417400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:45414200-45417600	Enhancers	Brain Cingulate Gyrus	brain
24	chr19:45414200-45417600	Enhancers	Brain Substantia Nigra	brain
25	chr19:45414200-45417600	Enhancers	Fetal Stomach	stomach
26	chr19:45414200-45418000	Enhancers	Spleen	Spleen
27	chr19:45414400-45416600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:45414400-45417400	Weak transcription	Fetal Brain Male	brain
29	chr19:45414600-45416000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:45414600-45416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:45414600-45416400	Bivalent Enhancer	Fetal Thymus	thymus
32	chr19:45414600-45417400	Enhancers	Brain Hippocampus Middle	brain
33	chr19:45414600-45417400	Weak transcription	Fetal Brain Female	brain
34	chr19:45414600-45417400	Weak transcription	Lung	lung
35	chr19:45414600-45417600	Enhancers	Adipose Nuclei	Adipose
36	chr19:45414800-45416000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:45414800-45416000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:45414800-45416000	Weak transcription	Brain Germinal Matrix	brain
39	chr19:45414800-45416000	Enhancers	HepG2	liver
40	chr19:45414800-45416200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:45414800-45416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:45414800-45417200	Weak transcription	Colonic Mucosa	Colon
43	chr19:45414800-45417400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr19:45414800-45417400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:45414800-45417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:45414800-45417400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:45414800-45417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:45414800-45417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:45414800-45417800	Weak transcription	Esophagus	oesophagus
50	chr19:45414800-45417800	Weak transcription	Gastric	stomach

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