Variant report

Variant	rs451846
Chromosome Location	chr19:36347383-36347384
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	SIN3AK20	chr19:36347374-36348134	PANC-1	pancreas:	n/a	n/a
2	SP1	chr19:36347149-36347664	H1-hESC	embryonic stem cell:	n/a	chr19:36347541-36347555 chr19:36347202-36347216 chr19:36347545-36347559 chr19:36347613-36347627
3	BACH1	chr19:36346966-36347538	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr19:36346767-36348286	SK-N-SH	brain:	n/a	n/a
5	ZBTB7A	chr19:36347316-36348139	ECC-1	luminal epithelium:	n/a	chr19:36347668-36347679
6	ZBTB7A	chr19:36347021-36348130	ECC-1	luminal epithelium:	n/a	chr19:36347668-36347679
7	SIN3A	chr19:36346874-36348173	H1-hESC	embryonic stem cell:	n/a	chr19:36347669-36347680 chr19:36347580-36347591 chr19:36347042-36347055 chr19:36347407-36347420

No.	Distal block	Cell Line	Cell type
1	chr19:36339201..36341065-chr19:36345567..36348442,2	K562	blood:
2	chr19:36336052..36339154-chr19:36344963..36347982,3	MCF-7	breast:
3	chr19:36341339..36343391-chr19:36346097..36348874,2	MCF-7	breast:
4	chr19:36208456..36210034-chr19:36345854..36347720,2	K562	blood:
5	chr19:36339670..36341868-chr19:36344808..36347697,2	MCF-7	breast:
6	chr19:36339201..36341036-chr19:36345575..36348442,2	K562	blood:
7	chr19:36301268..36304054-chr19:36346309..36349120,2	K562	blood:

Variant related genes	Relation type
NPHS1	TF binding region
KIRREL2	TF binding region
ENSG00000272333	Chromatin interaction
ENSG00000250799	Chromatin interaction
ENSG00000161270	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2073901	0.89[ASN][1000 genomes]
rs370644	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs393116	0.90[ASN][1000 genomes]
rs404299	0.90[ASN][1000 genomes]
rs435259	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs435605	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs442219	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs446014	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60092221	0.80[AMR][1000 genomes]
rs619833	0.90[ASN][1000 genomes]
rs670091	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7253616	0.80[AMR][1000 genomes]
rs807659	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8106827	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911639	chr19:36342909-36365985	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36346000-36347400	Bivalent Enhancer	Fetal Intestine Small	intestine
2	chr19:36346200-36347400	Enhancers	K562	blood
3	chr19:36346200-36348600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:36346400-36348200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr19:36346600-36347400	Bivalent Enhancer	Fetal Thymus	thymus
6	chr19:36346600-36347400	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr19:36346800-36347400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr19:36346800-36347400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:36346800-36347400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
10	chr19:36346800-36347400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr19:36346800-36347400	Bivalent Enhancer	Brain Substantia Nigra	brain
12	chr19:36346800-36347400	Bivalent Enhancer	Esophagus	oesophagus
13	chr19:36346800-36347400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr19:36346800-36347400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr19:36346800-36347400	Flanking Bivalent TSS/Enh	Dnd41	blood
16	chr19:36346800-36347600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:36346800-36347600	Bivalent Enhancer	Fetal Lung	lung
18	chr19:36346800-36348200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:36346800-36348400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr19:36346800-36348400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:36346800-36348600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr19:36346800-36348600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr19:36347000-36347400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:36347000-36347400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr19:36347000-36347400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr19:36347000-36347400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:36347000-36347400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:36347000-36347400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:36347000-36347400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:36347000-36347400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:36347000-36347400	Bivalent Enhancer	Colonic Mucosa	Colon
32	chr19:36347000-36347400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr19:36347000-36347400	Genic enhancers	Right Atrium	heart
34	chr19:36347000-36347400	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr19:36347000-36347400	Bivalent Enhancer	HMEC	breast
36	chr19:36347000-36347600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:36347000-36347600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr19:36347000-36347600	Bivalent Enhancer	Fetal Heart	heart
39	chr19:36347000-36347600	Active TSS	Pancreas	Pancrea
40	chr19:36347000-36347600	Flanking Active TSS	Right Ventricle	heart
41	chr19:36347000-36347800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr19:36347000-36348000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:36347000-36348200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr19:36347000-36348200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:36347000-36348200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:36347000-36348200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr19:36347000-36348400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:36347000-36348400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:36347000-36348400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:36347000-36348400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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