Variant report

Variant	rs1194993
Chromosome Location	chr20:30180935-30180936
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:30156032..30163355-chr20:30174111..30184314,17	K562	blood:
2	chr20:30175191..30187262-chr20:30189260..30197267,31	K562	blood:
3	chr20:30135179..30137542-chr20:30180699..30183633,2	MCF-7	breast:
4	chr20:30153361..30167278-chr20:30173376..30187153,33	MCF-7	breast:
5	chr20:30175872..30185816-chr20:30189435..30197267,30	K562	blood:
6	chr20:30176157..30178987-chr20:30180317..30182699,2	MCF-7	breast:
7	chr20:30102288..30105404-chr20:30180836..30182853,3	MCF-7	breast:
8	chr20:30146559..30148904-chr20:30177632..30182688,4	MCF-7	breast:
9	chr20:30154561..30159420-chr20:30179648..30183966,5	MCF-7	breast:
10	chr20:30160818..30161417-chr20:30180810..30181724,2	MCF-7	breast:
11	chr20:30159179..30162405-chr20:30178265..30182591,5	K562	blood:
12	chr20:30159490..30164990-chr20:30179028..30186560,14	MCF-7	breast:
13	chr20:30149189..30151673-chr20:30180011..30183264,4	MCF-7	breast:
14	chr20:30179002..30181208-chr20:30184860..30186886,2	K562	blood:
15	chr20:30172962..30175823-chr20:30180017..30182280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230613	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000101294	Chromatin interaction
ENSG00000101898	Chromatin interaction
ENSG00000235313	Chromatin interaction
ENSG00000125968	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2376986	0.91[AMR][1000 genomes]
rs412142	0.99[ASN][1000 genomes]
rs73613718	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73613722	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv3345	chr20:30136856-30181749	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
20	nsv1056783	chr20:30140632-30625189	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	400 gene(s)	inside rSNPs	diseases
21	nsv544240	chr20:30140632-30625189	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	400 gene(s)	inside rSNPs	diseases
22	nsv979478	chr20:30158946-30200763	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	363 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:30176200-30181000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr20:30176200-30181000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr20:30176200-30181400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr20:30176200-30181400	Weak transcription	Colonic Mucosa	Colon
5	chr20:30176200-30181400	Weak transcription	Fetal Intestine Small	intestine
6	chr20:30176200-30181400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr20:30176200-30181400	Weak transcription	Right Ventricle	heart
8	chr20:30176200-30181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr20:30176200-30181600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr20:30176200-30181600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr20:30176200-30182200	Weak transcription	Gastric	stomach
12	chr20:30176200-30182400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:30176200-30182800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr20:30176200-30183200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:30176200-30183200	Weak transcription	Brain Hippocampus Middle	brain
16	chr20:30176200-30184000	Weak transcription	Ovary	ovary
17	chr20:30176400-30181000	Weak transcription	Liver	Liver
18	chr20:30176400-30181000	Weak transcription	NH-A	brain
19	chr20:30176400-30181200	Weak transcription	Spleen	Spleen
20	chr20:30176400-30181200	Weak transcription	HUVEC	blood vessel
21	chr20:30176400-30181200	Weak transcription	NHLF	lung
22	chr20:30176400-30181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:30176400-30181400	Weak transcription	Adipose Nuclei	Adipose
24	chr20:30176400-30181400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr20:30176400-30181400	Weak transcription	HSMM	muscle
26	chr20:30176400-30183400	Weak transcription	Brain Angular Gyrus	brain
27	chr20:30176400-30183800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:30177000-30181200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr20:30177600-30181200	Weak transcription	Left Ventricle	heart
30	chr20:30177600-30181200	Weak transcription	NHDF-Ad	bronchial
31	chr20:30177800-30181200	Weak transcription	NHEK	skin
32	chr20:30177800-30181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:30177800-30183000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr20:30178000-30182400	Weak transcription	Fetal Kidney	kidney
35	chr20:30178400-30181200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr20:30179000-30181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:30179200-30181000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr20:30179200-30181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:30179200-30181200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr20:30179200-30181200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:30179200-30181400	Weak transcription	Lung	lung
42	chr20:30179200-30181600	Weak transcription	Right Atrium	heart
43	chr20:30179200-30182800	Weak transcription	Brain Anterior Caudate	brain
44	chr20:30179400-30181000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr20:30179400-30181000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:30179400-30181000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:30179400-30181000	Weak transcription	Osteobl	bone
48	chr20:30179400-30181400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr20:30179400-30181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr20:30179400-30181400	Weak transcription	Esophagus	oesophagus

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