Variant report

Variant	rs4803630
Chromosome Location	chr19:43951083-43951084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43937028..43937653-chr19:43950851..43951764,3	MCF-7	breast:
2	chr19:43949852..43952277-chr19:44156357..44158096,2	K562	blood:
3	chr19:43950972..43953195-chr19:43955258..43957293,2	MCF-7	breast:
4	chr19:43950949..43953195-chr19:44029676..44031859,2	MCF-7	breast:
5	chr19:43949660..43952729-chr19:43966089..43969502,3	K562	blood:
6	chr19:43950829..43952315-chr19:44023277..44024591,13	MCF-7	breast:
7	chr19:43950463..43951811-chr19:44023286..44024411,8	MCF-7	breast:
8	chr19:43950879..43951915-chr19:44023292..44024529,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124466	Chromatin interaction
ENSG00000105755	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12974736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12976910	0.99[ASN][1000 genomes]
rs12976959	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12977973	0.99[ASN][1000 genomes]
rs12978127	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12978525	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12978874	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12979480	0.99[ASN][1000 genomes]
rs12980013	0.99[ASN][1000 genomes]
rs12980224	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12983123	0.96[ASN][1000 genomes]
rs12984388	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12984476	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12984674	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs16976463	0.82[CEU][hapmap]
rs16976509	0.84[LWK][hapmap];0.86[YRI][hapmap]
rs2599471	0.85[ASN][1000 genomes]
rs2599472	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2599474	0.80[ASN][1000 genomes]
rs2682597	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2682598	0.84[ASN][1000 genomes]
rs34228745	0.99[ASN][1000 genomes]
rs34860326	0.99[ASN][1000 genomes]
rs34865699	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs35132532	0.99[ASN][1000 genomes]
rs35146204	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs35519460	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35566664	0.99[ASN][1000 genomes]
rs35573924	0.98[ASN][1000 genomes]
rs35585729	0.99[ASN][1000 genomes]
rs35647486	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35895695	1.00[ASN][1000 genomes]
rs36049523	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3859443	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3859444	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4028111	0.91[ASN][1000 genomes]
rs41354744	0.82[CEU][hapmap]
rs4464191	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs60765266	0.99[ASN][1000 genomes]
rs71350679	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs71350682	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised 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	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
12	nsv1060280	chr19:43866823-43959685	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv520852	chr19:43885085-43960114	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv579850	chr19:43885085-43960114	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1066231	chr19:43918840-43954915	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv579851	chr19:43920612-43955114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv1061862	chr19:43925290-43954915	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1058848	chr19:43925290-43957387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv2501	chr19:43942581-43978424	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43943200-43953800	Weak transcription	Right Atrium	heart
2	chr19:43943400-43951400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:43943800-43954800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:43944000-43956600	Weak transcription	Spleen	Spleen
5	chr19:43944200-43954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:43944200-43954800	Weak transcription	Fetal Thymus	thymus
7	chr19:43944400-43951200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:43948800-43951800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:43949200-43951400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:43949400-43951400	Weak transcription	Placenta	Placenta
11	chr19:43949800-43951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:43949800-43954800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:43950200-43954600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:43950400-43952400	Weak transcription	K562	blood
15	chr19:43950600-43951800	Enhancers	NHEK	skin
16	chr19:43951000-43951200	Enhancers	Esophagus	oesophagus
17	chr19:43951000-43951200	Enhancers	Stomach Smooth Muscle	stomach
18	chr19:43951000-43951600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr19:43951000-43951600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr19:43951000-43951600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:43951000-43951600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:43951000-43951600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:43951000-43951600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr19:43951000-43951600	Enhancers	HepG2	liver
25	chr19:43951000-43951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr19:43951000-43951800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr19:43951000-43951800	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:43951000-43951800	Enhancers	Primary T cells from cord blood	blood
29	chr19:43951000-43951800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr19:43951000-43951800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr19:43951000-43951800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr19:43951000-43951800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:43951000-43952000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:43951000-43952000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr19:43951000-43952000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr19:43951000-43952000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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