Variant report

Variant	rs435605
Chromosome Location	chr19:36346000-36346001
allele	C/T
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:6)
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	CTCF	chr19:36345980-36346130	WERI-Rb-1	eye:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36339201..36341065-chr19:36345567..36348442,2	K562	blood:
2	chr19:36342113..36343944-chr19:36344326..36346095,2	MCF-7	breast:
3	chr19:36336052..36339154-chr19:36344963..36347982,3	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:

No data

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2073901	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs370644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs392702	1.00[MEX][hapmap]
rs393116	0.90[ASN][1000 genomes]
rs404299	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs435259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs442219	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs446014	1.00[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs451846	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60092221	0.90[AMR][1000 genomes]
rs619833	0.90[ASN][1000 genomes]
rs670091	1.00[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7253616	0.90[AMR][1000 genomes]
rs807659	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8106827	0.90[AMR][1000 genomes]
rs8110675	1.00[MEX][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36337000-36347000	Weak transcription	Right Atrium	heart
2	chr19:36343800-36346800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36345400-36347000	Bivalent Enhancer	HepG2	liver
4	chr19:36345600-36346200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:36345600-36346200	Enhancers	Pancreas	Pancrea
6	chr19:36345600-36346600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:36345600-36346600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:36345600-36346600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr19:36345600-36346800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr19:36345600-36347200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36345600-36347200	Enhancers	A549	lung
12	chr19:36345800-36346000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:36345800-36346200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:36345800-36346800	Enhancers	Fetal Brain Female	brain
15	chr19:36345800-36347200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr19:36345800-36347200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr19:36346000-36346200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:36346000-36346200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:36346000-36346400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:36346000-36346800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr19:36346000-36346800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:36346000-36347400	Bivalent Enhancer	Fetal Intestine Small	intestine

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