Variant report

Variant	rs4806351
Chromosome Location	chr19:37264959-37264960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37063854..37065418-chr19:37262714..37265586,2	K562	blood:
2	chr19:37264129..37265649-chr19:37327826..37329593,2	K562	blood:

Variant related genes	Relation type
ENSG00000197863	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000233527	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10410980	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10420413	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs1148387	0.83[EUR][1000 genomes]
rs1148393	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1148400	0.82[EUR][1000 genomes]
rs11669642	0.83[AMR][1000 genomes]
rs11672680	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1227796	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs1227797	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1227802	0.85[EUR][1000 genomes]
rs1227809	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs1227811	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227812	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227816	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1227818	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1227826	0.80[EUR][1000 genomes]
rs1227863	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs1227864	0.83[EUR][1000 genomes]
rs1227865	0.83[EUR][1000 genomes]
rs1227867	0.83[EUR][1000 genomes]
rs12982205	0.86[CEU][hapmap]
rs12986045	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12986257	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1302670	0.86[CEU][hapmap]
rs2245366	0.87[CEU][hapmap];0.86[CHB][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385564	0.83[AMR][1000 genomes]
rs2445877	0.81[EUR][1000 genomes]
rs2695086	0.83[EUR][1000 genomes]
rs28372636	0.85[EUR][1000 genomes]
rs3096619	0.86[YRI][hapmap]
rs3096631	0.82[YRI][hapmap]
rs3096632	0.82[YRI][hapmap]
rs3096636	0.82[YRI][hapmap]
rs3108196	0.81[CEU][hapmap]
rs3108218	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3108219	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3108549	0.87[CEU][hapmap]
rs3108573	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3108583	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3108585	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3108589	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3108590	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3108598	0.87[CEU][hapmap]
rs34629452	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35127048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35265584	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35313661	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35815897	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3745775	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs4092391	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806350	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806353	0.83[EUR][1000 genomes]
rs57193089	0.83[EUR][1000 genomes]
rs58381108	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62114321	0.83[EUR][1000 genomes]
rs7250376	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7258563	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73037149	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8106994	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	esv1829205	chr19:37252164-37285622	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a
15	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	esv1827511	chr19:37261867-37283594	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37260600-37265200	ZNF genes & repeats	A549	lung
2	chr19:37261800-37265000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:37261800-37265600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:37262200-37265000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:37262200-37265200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:37262200-37265400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:37262400-37265000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:37263400-37265200	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:37264000-37265200	Flanking Active TSS	Dnd41	blood
10	chr19:37264400-37266000	Weak transcription	Placenta	Placenta
11	chr19:37264400-37266200	Weak transcription	Fetal Intestine Large	intestine
12	chr19:37264400-37266400	Weak transcription	Fetal Muscle Leg	muscle
13	chr19:37264400-37266400	Weak transcription	Gastric	stomach
14	chr19:37264400-37266400	Weak transcription	Left Ventricle	heart
15	chr19:37264400-37266400	Weak transcription	Ovary	ovary
16	chr19:37264400-37266400	Weak transcription	Right Atrium	heart
17	chr19:37264400-37266600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:37264600-37265000	Weak transcription	Liver	Liver
19	chr19:37264600-37265200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:37264600-37265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:37264600-37265400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:37264600-37265600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:37264600-37266000	Weak transcription	Fetal Thymus	thymus
24	chr19:37264600-37266200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:37264600-37266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:37264600-37266200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:37264600-37266200	Weak transcription	Adipose Nuclei	Adipose
28	chr19:37264600-37266200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:37264600-37266200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:37264600-37266200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:37264600-37266200	Weak transcription	Brain Substantia Nigra	brain
32	chr19:37264600-37266200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:37264600-37266200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:37264600-37266200	Weak transcription	HUVEC	blood vessel
35	chr19:37264600-37266200	Weak transcription	NHDF-Ad	bronchial
36	chr19:37264600-37266400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:37264600-37266400	Weak transcription	Brain Anterior Caudate	brain
38	chr19:37264600-37266400	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:37264600-37266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:37264600-37266400	Weak transcription	Fetal Lung	lung
41	chr19:37264600-37266400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:37264600-37266400	Weak transcription	Pancreas	Pancrea
43	chr19:37264600-37266400	Weak transcription	Right Ventricle	heart
44	chr19:37264600-37266400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:37264600-37266400	Weak transcription	HSMM	muscle
46	chr19:37264600-37266400	Weak transcription	NH-A	brain
47	chr19:37264600-37266400	Weak transcription	Osteobl	bone
48	chr19:37264600-37266600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:37264600-37266600	Weak transcription	Fetal Kidney	kidney
50	chr19:37264600-37274800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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