Variant report

Variant	rs73612002
Chromosome Location	chr20:30117152-30117153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:30114496..30117239-chr20:30119130..30120857,2	K562	blood:
2	chr20:30045212..30046827-chr20:30114550..30117367,2	K562	blood:
3	chr20:30115505..30117970-chr20:30141852..30144399,2	K562	blood:

Variant related genes	Relation type
ENSG00000101294	Chromatin interaction

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

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

rs_ID	r²[population]
rs11699147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2233832	0.83[EUR][1000 genomes]
rs3861819	0.81[EUR][1000 genomes]
rs412142	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869384	chr20:29833386-30605088	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
2	nsv470546	chr20:29833609-30235302	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
3	nsv1062069	chr20:29833958-30153486	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1062612	chr20:29833958-30219337	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	383 gene(s)	inside rSNPs	diseases
5	nsv1061673	chr20:29833958-30649496	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
6	nsv544232	chr20:29833958-30649496	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
7	nsv1058344	chr20:29835037-30386611	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	402 gene(s)	inside rSNPs	diseases
8	nsv1059672	chr20:29835037-30621271	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	419 gene(s)	inside rSNPs	diseases
9	esv2763228	chr20:29835049-30239522	Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	385 gene(s)	inside rSNPs	diseases
10	nsv949085	chr20:29846303-30473188	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	414 gene(s)	inside rSNPs	diseases
11	nsv1058020	chr20:29877877-30197681	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
12	nsv544236	chr20:29877877-30197681	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
13	nsv1063560	chr20:29877877-30435888	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
14	nsv544237	chr20:29877877-30435888	Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
15	nsv458961	chr20:29893501-30275906	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
16	nsv585911	chr20:29893501-30275906	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS 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 miRNA target site	383 gene(s)	inside rSNPs	diseases
17	nsv1067177	chr20:29900572-30299363	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	383 gene(s)	inside rSNPs	diseases
18	nsv1067419	chr20:30029545-30162261	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv544238	chr20:30029545-30162261	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv1057001	chr20:30108573-30190814	Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
21	nsv544239	chr20:30108573-30190814	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:30103800-30125400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:30104000-30134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:30105400-30134800	Weak transcription	Fetal Heart	heart
4	chr20:30105600-30123000	Weak transcription	Brain Substantia Nigra	brain
5	chr20:30106000-30131800	Strong transcription	Fetal Stomach	stomach
6	chr20:30107400-30117600	Weak transcription	Small Intestine	intestine
7	chr20:30107400-30121400	Strong transcription	Dnd41	blood
8	chr20:30107600-30118600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr20:30108600-30129800	Strong transcription	Primary T cells from cord blood	blood
10	chr20:30108800-30118800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:30108800-30124200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr20:30108800-30125800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr20:30109000-30132800	Strong transcription	Fetal Intestine Small	intestine
14	chr20:30109200-30117200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:30109800-30127000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:30109800-30131800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr20:30109800-30133600	Strong transcription	HepG2	liver
18	chr20:30110400-30133800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:30111200-30133200	Strong transcription	GM12878-XiMat	blood
20	chr20:30111400-30124600	Strong transcription	Fetal Thymus	thymus
21	chr20:30111400-30128200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr20:30111400-30130800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr20:30111400-30133400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:30111600-30128000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr20:30111600-30128600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:30111600-30134000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr20:30111800-30124800	Strong transcription	Fetal Muscle Leg	muscle
28	chr20:30111800-30127000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:30111800-30129000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr20:30111800-30129400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr20:30111800-30131800	Weak transcription	Right Atrium	heart
32	chr20:30112000-30119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr20:30112000-30120200	Weak transcription	Stomach Mucosa	stomach
34	chr20:30112000-30124200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:30112000-30125000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:30112200-30124800	Strong transcription	Placenta	Placenta
37	chr20:30112200-30129000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:30112200-30133200	Strong transcription	Liver	Liver
39	chr20:30112400-30124800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr20:30112400-30133400	Strong transcription	Fetal Intestine Large	intestine
41	chr20:30112600-30129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr20:30112600-30133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr20:30112600-30133200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr20:30112600-30134800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr20:30112800-30123200	Strong transcription	Thymus	Thymus
46	chr20:30112800-30124400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr20:30112800-30124800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:30112800-30127800	Strong transcription	Hela-S3	cervix
49	chr20:30113000-30127000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:30113000-30128800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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