Variant report

Variant	rs7976748
Chromosome Location	chr12:48115997-48115998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr12:48115799-48116492	MCF-7	breast:	n/a	n/a
2	NR2F2	chr12:48115826-48116471	MCF-7	breast:	n/a	n/a
3	GATA3	chr12:48115919-48116233	T-47D	breast:	n/a	n/a
4	HA-E2F1	chr12:48115881-48116580	MCF-7	breast:	n/a	n/a
5	GATA3	chr12:48115854-48116651	MCF-7	breast:	n/a	n/a
6	NR2F2	chr12:48115798-48116535	MCF-7	breast:	n/a	n/a
7	ZNF217	chr12:48115888-48116552	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48115954..48117583-chr12:48123112..48125553,2	K562	blood:
2	chr12:48097267..48105309-chr12:48111877..48120917,8	MCF-7	breast:
3	chr12:48113473..48116472-chr12:48126075..48128753,2	MCF-7	breast:
4	chr12:48115974..48118719-chr12:48231014..48233815,2	K562	blood:
5	chr12:48111138..48113167-chr12:48114510..48117991,4	K562	blood:
6	chr12:48111480..48113167-chr12:48115489..48118997,3	K562	blood:
7	chr12:48113366..48116147-chr12:48117513..48120473,4	MCF-7	breast:
8	chr12:48115323..48118041-chr12:48153022..48154829,2	MCF-7	breast:
9	chr12:48113943..48116894-chr12:48118403..48120820,3	K562	blood:

No data

Variant related genes	Relation type
ENDOU	TF binding region
ENSG00000005175	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111405	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10783212	0.89[ASN][1000 genomes]
rs10875677	0.88[ASN][1000 genomes]
rs10875682	0.87[ASN][1000 genomes]
rs10875685	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875686	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875687	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875688	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168191	0.87[ASN][1000 genomes]
rs11168192	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs11168193	0.87[ASN][1000 genomes]
rs11168199	0.80[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs11168200	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11168203	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11168208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168213	0.80[YRI][hapmap]
rs11168214	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168216	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12366410	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs12367193	0.86[ASN][1000 genomes]
rs12370643	0.94[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1541384	0.86[ASN][1000 genomes]
rs2072117	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283346	0.89[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764013	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56240307	0.82[ASN][1000 genomes]
rs582680	0.83[ASN][1000 genomes]
rs602143	0.83[ASN][1000 genomes]
rs612773	0.84[ASN][1000 genomes]
rs61917590	0.83[ASN][1000 genomes]
rs61917591	0.83[ASN][1000 genomes]
rs61917594	0.86[ASN][1000 genomes]
rs61917595	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61917616	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61917617	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs630777	0.83[ASN][1000 genomes]
rs632944	0.83[ASN][1000 genomes]
rs646223	0.83[ASN][1000 genomes]
rs6580634	0.91[ASN][1000 genomes]
rs671961	0.84[ASN][1000 genomes]
rs7136561	0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs7137529	0.83[ASN][1000 genomes]
rs7311663	0.94[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs7484827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954502	0.83[ASN][1000 genomes]
rs7969186	0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7977613	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	75 gene(s)	inside rSNPs	diseases
5	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
6	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7976748	ENDOU	cis	Thyroid	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:48111400-48116000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:48111400-48124000	Weak transcription	Gastric	stomach
4	chr12:48111800-48116000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:48111800-48117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:48112000-48116000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:48112000-48116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:48112000-48116400	Weak transcription	Psoas Muscle	Psoas
9	chr12:48112000-48117000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:48112000-48118200	Weak transcription	Fetal Intestine Large	intestine
11	chr12:48112000-48118400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:48112000-48120000	Weak transcription	Fetal Lung	lung
13	chr12:48112000-48120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:48112000-48122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:48112000-48123000	Weak transcription	Pancreas	Pancrea
16	chr12:48112000-48126800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:48112200-48116400	Weak transcription	Aorta	Aorta
18	chr12:48112200-48116400	Weak transcription	Brain Angular Gyrus	brain
19	chr12:48112200-48116400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:48112200-48117200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:48112200-48118600	Weak transcription	Stomach Mucosa	stomach
22	chr12:48112200-48119000	Weak transcription	Colonic Mucosa	Colon
23	chr12:48112200-48119200	Weak transcription	GM12878-XiMat	blood
24	chr12:48112200-48125400	Weak transcription	Fetal Thymus	thymus
25	chr12:48112200-48127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:48112400-48116400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:48112600-48116200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:48112600-48116600	Weak transcription	Left Ventricle	heart
29	chr12:48112600-48116800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:48112600-48119000	Weak transcription	Right Atrium	heart
31	chr12:48112600-48119200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:48112600-48119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:48112600-48122200	Weak transcription	Spleen	Spleen
34	chr12:48112600-48128600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:48112800-48119600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:48113000-48116000	Weak transcription	Fetal Heart	heart
37	chr12:48113000-48123400	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:48113200-48117800	Strong transcription	Liver	Liver
39	chr12:48113400-48119400	Weak transcription	Adipose Nuclei	Adipose
40	chr12:48113600-48118600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:48114000-48120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:48114200-48122200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
45	chr12:48114400-48117400	Strong transcription	Fetal Stomach	stomach
46	chr12:48114600-48116000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:48114600-48117200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:48114600-48117800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:48114600-48128800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:48114800-48116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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