Variant report

Variant	rs34764077
Chromosome Location	chr19:52208492-52208493
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52191148..52193451-chr19:52208033..52210074,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11881781	0.97[ASN][1000 genomes]
rs2167417	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167418	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864922	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35653323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802841	1.00[ASN][1000 genomes]
rs7252496	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73054871	0.97[ASN][1000 genomes]
rs8107937	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34764077	HAS1	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52204400-52208600	Enhancers	Fetal Heart	heart
2	chr19:52206800-52208800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:52207000-52208600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:52207000-52208600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:52207200-52208600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr19:52207600-52208600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr19:52207600-52208600	Flanking Active TSS	Colonic Mucosa	Colon
8	chr19:52207600-52208800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:52207800-52208600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr19:52207800-52208600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr19:52207800-52208600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr19:52207800-52208600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr19:52207800-52208600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr19:52207800-52208800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:52207800-52209600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:52208000-52208600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr19:52208000-52208600	Genic enhancers	Placenta	Placenta
18	chr19:52208000-52208600	Enhancers	Spleen	Spleen
19	chr19:52208000-52208600	Flanking Active TSS	Dnd41	blood
20	chr19:52208000-52209800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:52208000-52211000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:52208000-52211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:52208000-52211600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:52208000-52211600	Weak transcription	Gastric	stomach
25	chr19:52208000-52212000	Weak transcription	Aorta	Aorta
26	chr19:52208000-52216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:52208200-52208600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:52208200-52208600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr19:52208200-52208600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:52208200-52208600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:52208200-52208600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:52208200-52208600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:52208200-52208600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr19:52208200-52208600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr19:52208200-52208600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr19:52208200-52208600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr19:52208200-52208600	Weak transcription	Liver	Liver
38	chr19:52208200-52208600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr19:52208200-52208600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:52208200-52208600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr19:52208200-52208600	Genic enhancers	Fetal Intestine Small	intestine
42	chr19:52208200-52208600	Enhancers	Left Ventricle	heart
43	chr19:52208200-52208600	Enhancers	Psoas Muscle	Psoas
44	chr19:52208200-52208600	Enhancers	Right Atrium	heart
45	chr19:52208200-52208600	Enhancers	Right Ventricle	heart
46	chr19:52208200-52208600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:52208200-52208600	Enhancers	Small Intestine	intestine
48	chr19:52208200-52208600	Enhancers	Stomach Mucosa	stomach
49	chr19:52208200-52208800	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:52208200-52208800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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