Variant report

Variant	rs9697423
Chromosome Location	chr12:123988504-123988505
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123981817..123985054-chr12:123986830..123990425,4	K562	blood:
2	chr12:123986856..123989392-chr12:124016704..124019624,2	K562	blood:
3	chr12:123987186..123989370-chr12:124003960..124006021,2	K562	blood:
4	chr12:123982403..123985718-chr12:123986410..123989234,3	MCF-7	breast:
5	chr12:123986828..123988513-chr12:123991170..123993036,2	K562	blood:

Variant related genes	Relation type
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11497310	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11507743	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11516174	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11516175	0.92[EUR][1000 genomes]
rs11516178	0.92[EUR][1000 genomes]
rs11522341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11522342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11522343	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11523309	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11535679	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13303358	0.95[EUR][1000 genomes]
rs28493578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28703907	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28728075	0.95[EUR][1000 genomes]
rs28781570	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28894691	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61953496	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7957839	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9697330	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9697415	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9723026	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9723244	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9777715	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9777830	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS 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	14 gene(s)	inside rSNPs	diseases
5	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
4	chr12:123956800-123993400	Weak transcription	HMEC	breast
5	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
6	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
9	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:123968800-123995400	Weak transcription	NH-A	brain
13	chr12:123969000-123993800	Weak transcription	HUVEC	blood vessel
14	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:123973600-123995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:123974600-123995400	Weak transcription	Dnd41	blood
17	chr12:123977400-123994200	Weak transcription	Fetal Heart	heart
18	chr12:123979600-123991800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:123979600-123994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:123979800-123988600	Weak transcription	Right Atrium	heart
22	chr12:123979800-123989000	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:123980800-123995400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:123981600-123994200	Weak transcription	Lung	lung
25	chr12:123981800-123995400	Weak transcription	NHLF	lung
26	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
27	chr12:123982600-123994800	Weak transcription	K562	blood
28	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:123983000-123994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:123983000-123995200	Weak transcription	Fetal Kidney	kidney
31	chr12:123983000-123995400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:123983200-123994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:123983400-123988600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:123983400-123990400	Weak transcription	Fetal Lung	lung
35	chr12:123983400-123994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:123983400-123994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:123983400-123995400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:123983400-123997200	Weak transcription	Liver	Liver
39	chr12:123983600-123995600	Weak transcription	NHDF-Ad	bronchial
40	chr12:123983800-123990400	Weak transcription	A549	lung
41	chr12:123984000-123988800	Weak transcription	Left Ventricle	heart
42	chr12:123984000-123990600	Weak transcription	HSMMtube	muscle
43	chr12:123984000-123991200	Weak transcription	Adipose Nuclei	Adipose
44	chr12:123984000-123993600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:123984000-123994400	Weak transcription	Ovary	ovary
46	chr12:123984000-123995400	Weak transcription	HSMM	muscle
47	chr12:123984000-123995600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:123984200-123988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:123984200-123988600	Weak transcription	Right Ventricle	heart
50	chr12:123984200-123988600	Weak transcription	Stomach Smooth Muscle	stomach

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