Variant report

Variant	rs59774237
Chromosome Location	chr12:123847621-123847622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:123847579-123850676	IMR90	lung:	n/a	n/a
2	MXI1	chr12:123847099-123850811	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr12:123847603-123847648	HepG2	liver:	n/a	n/a
4	CUX1	chr12:123847563-123847726	K562	blood:	n/a	n/a
5	ZNF384	chr12:123846910-123847675	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
2	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
3	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
4	chr12:123846880..123851536-chr12:123865445..123870876,12	MCF-7	breast:
5	chr12:123829057..123831002-chr12:123845125..123847852,2	K562	blood:
6	chr12:123846861..123850261-chr12:124066655..124071408,9	MCF-7	breast:
7	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
8	chr12:123833002..123837136-chr12:123847313..123849620,3	MCF-7	breast:
9	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
10	chr12:123847169..123849970-chr12:124085128..124088523,3	K562	blood:
11	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
12	chr12:123846000..123850093-chr12:124067189..124070124,4	K562	blood:
13	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256092	TF binding region
ENSG00000086598	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000207189	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28856108	0.84[AFR][1000 genomes]
rs56999938	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59827112	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9739142	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS 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	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:123832400-123848200	Weak transcription	Esophagus	oesophagus
3	chr12:123832800-123847800	Weak transcription	Fetal Kidney	kidney
4	chr12:123835000-123847800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:123835000-123848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:123835400-123847800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:123835400-123847800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:123836000-123848200	Weak transcription	Gastric	stomach
9	chr12:123840800-123847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:123842200-123847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:123843000-123847800	Weak transcription	Right Atrium	heart
12	chr12:123843000-123848000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:123845000-123848000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:123845600-123848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:123845800-123847800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:123846000-123847800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:123846400-123847800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:123846400-123847800	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:123846400-123847800	Enhancers	Ovary	ovary
20	chr12:123846600-123847800	Enhancers	Liver	Liver
21	chr12:123846600-123847800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:123847000-123847800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:123847000-123847800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:123847000-123847800	Enhancers	Brain Hippocampus Middle	brain
25	chr12:123847000-123847800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:123847000-123847800	Enhancers	Fetal Intestine Small	intestine
27	chr12:123847000-123847800	Enhancers	Placenta	Placenta
28	chr12:123847000-123847800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:123847000-123847800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:123847000-123847800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:123847000-123848000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:123847000-123848000	Enhancers	Fetal Brain Male	brain
33	chr12:123847000-123848200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:123847000-123848800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:123847200-123847800	Enhancers	Primary T cells from cord blood	blood
36	chr12:123847200-123847800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:123847200-123847800	Enhancers	Brain Angular Gyrus	brain
38	chr12:123847200-123847800	Enhancers	Brain Anterior Caudate	brain
39	chr12:123847200-123847800	Enhancers	Fetal Stomach	stomach
40	chr12:123847200-123847800	Flanking Active TSS	K562	blood
41	chr12:123847200-123848000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:123847200-123848000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:123847200-123848000	Enhancers	Left Ventricle	heart
44	chr12:123847200-123848200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:123847200-123848400	Flanking Active TSS	Dnd41	blood
46	chr12:123847200-123848600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:123847200-123850600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:123847400-123847800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:123847400-123847800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:123847400-123847800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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