Variant report

Variant	rs34738545
Chromosome Location	chr19:52195085-52195086
allele	A/G
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	POLR2A	chr19:52192548-52195125	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr19:52195060-52195210	Caco-2	colon:	n/a	n/a
3	MXI1	chr19:52190804-52195103	SK-N-SH	brain:	n/a	chr19:52193788-52193803
4	ZBTB7A	chr19:52194860-52195184	K562	blood:	n/a	n/a
5	POLR2A	chr19:52191073-52195667	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:52194894-52195284	MCF-7	breast:	n/a	n/a
7	CTBP2	chr19:52191102-52195103	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:52195045-52195832	K562	blood:	n/a	n/a
9	ELF1	chr19:52194803-52195115	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51869555..51871818-chr19:52192464..52195337,3	MCF-7	breast:
2	chr19:52190894..52195343-chr19:52204099..52207909,11	MCF-7	breast:

Variant related genes	Relation type
MIR125A	TF binding region
ENSG00000273318	TF binding region
MIR99B	TF binding region
MIRLET7E	TF binding region
SPACA6P	TF binding region
ENSG00000182310	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000105379	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11881781	0.88[EUR][1000 genomes]
rs34467678	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627212	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054871	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52190800-52195200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:52191000-52195200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:52191000-52195400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:52191000-52195800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:52191200-52196200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:52191200-52196200	Active TSS	Fetal Kidney	kidney
7	chr19:52191400-52195200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:52191400-52195400	Active TSS	HSMMtube	muscle
9	chr19:52191600-52195200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:52191600-52195200	Active TSS	Colon Smooth Muscle	Colon
11	chr19:52191600-52195200	Active TSS	Rectal Smooth Muscle	rectum
12	chr19:52191800-52195200	Active TSS	NHDF-Ad	bronchial
13	chr19:52191800-52195800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:52192000-52195200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:52192000-52195200	Active TSS	NHLF	lung
16	chr19:52192200-52195200	Active TSS	Pancreas	Pancrea
17	chr19:52192400-52195400	Active TSS	HepG2	liver
18	chr19:52193400-52195600	Active TSS	Duodenum Mucosa	Duodenum
19	chr19:52194000-52195200	Active TSS	Fetal Intestine Large	intestine
20	chr19:52194000-52195200	Active TSS	Fetal Intestine Small	intestine
21	chr19:52194000-52195200	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:52194000-52195200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:52194200-52195200	Enhancers	Primary T cells from cord blood	blood
24	chr19:52194200-52195200	Weak transcription	Liver	Liver
25	chr19:52194200-52196000	Enhancers	Spleen	Spleen
26	chr19:52194200-52205400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:52194400-52195200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:52194400-52195200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr19:52194400-52195200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr19:52194400-52195400	Flanking Active TSS	Right Ventricle	heart
31	chr19:52194400-52195400	Enhancers	Hela-S3	cervix
32	chr19:52194400-52195600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:52194400-52195600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:52194400-52195800	Flanking Active TSS	K562	blood
35	chr19:52194400-52195800	Flanking Active TSS	Osteobl	bone
36	chr19:52194600-52195200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:52194600-52195200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr19:52194600-52195200	Flanking Active TSS	Fetal Stomach	stomach
39	chr19:52194600-52195200	Weak transcription	Gastric	stomach
40	chr19:52194600-52195400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:52194600-52195400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr19:52194600-52195400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr19:52194600-52195400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr19:52194600-52195400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:52194600-52195400	Flanking Active TSS	Fetal Lung	lung
46	chr19:52194600-52195600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:52194600-52195600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr19:52194600-52195600	Enhancers	Fetal Thymus	thymus
49	chr19:52194600-52195800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:52194600-52195800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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