Variant report

Variant	rs73231994
Chromosome Location	chr12:123837003-123837004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123836722-123837250	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:123836920-123837253	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123833002..123837136-chr12:123847313..123849620,3	MCF-7	breast:
2	chr12:123831348..123835650-chr12:123835789..123840785,5	K562	blood:

Variant related genes	Relation type
ENSG00000207189	TF binding region
SBNO1	TF binding region
ENSG00000139697	Chromatin interaction
ENSG00000207189	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10846516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11057239	1.00[AFR][1000 genomes]
rs11057252	1.00[AMR][1000 genomes]
rs11057257	1.00[AMR][1000 genomes]
rs11057265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11057272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11057278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11057281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11057282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28553365	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28690392	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28698461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28828722	0.83[EUR][1000 genomes]
rs28875264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3881293	1.00[AMR][1000 genomes]
rs55634633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55932027	0.88[EUR][1000 genomes]
rs73216930	1.00[AMR][1000 genomes]
rs73216932	0.83[AMR][1000 genomes]
rs73233508	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7486351	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:124 , 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	chr12:123773200-123838000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123773400-123837200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:123773800-123837200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:123773800-123837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:123807600-123845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:123815200-123837200	Strong transcription	Fetal Stomach	stomach
8	chr12:123815600-123842000	Weak transcription	Psoas Muscle	Psoas
9	chr12:123816000-123838400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:123816000-123847400	Weak transcription	Stomach Mucosa	stomach
11	chr12:123820400-123847000	Weak transcription	Fetal Brain Male	brain
12	chr12:123829000-123839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:123829000-123847400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:123829400-123840200	Weak transcription	Ovary	ovary
15	chr12:123830000-123837600	Weak transcription	HMEC	breast
16	chr12:123830000-123847400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:123830000-123847400	Weak transcription	Colonic Mucosa	Colon
18	chr12:123830000-123847400	Weak transcription	NHLF	lung
19	chr12:123830200-123842200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:123830200-123847400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:123830200-123847400	Weak transcription	NHDF-Ad	bronchial
22	chr12:123830200-123847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:123830400-123838000	Weak transcription	Fetal Heart	heart
24	chr12:123830400-123840200	Weak transcription	HUVEC	blood vessel
25	chr12:123830400-123840600	Weak transcription	Small Intestine	intestine
26	chr12:123830400-123847600	Weak transcription	Aorta	Aorta
27	chr12:123830600-123847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:123830800-123837600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:123830800-123837800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:123830800-123840200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:123830800-123844800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:123830800-123846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123830800-123847200	Weak transcription	Hela-S3	cervix
34	chr12:123830800-123847200	Weak transcription	HSMMtube	muscle
35	chr12:123832200-123837400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr12:123832400-123848200	Weak transcription	Esophagus	oesophagus
37	chr12:123832600-123840200	Weak transcription	Lung	lung
38	chr12:123832600-123840200	Weak transcription	Pancreas	Pancrea
39	chr12:123832600-123840400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:123832600-123846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:123832600-123846600	Weak transcription	Spleen	Spleen
42	chr12:123832800-123837800	Weak transcription	Primary T cells from cord blood	blood
43	chr12:123832800-123837800	Weak transcription	HepG2	liver
44	chr12:123832800-123838200	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:123832800-123841200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:123832800-123847000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:123832800-123847000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:123832800-123847200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:123832800-123847400	Weak transcription	Osteobl	bone
50	chr12:123832800-123847800	Weak transcription	Fetal Kidney	kidney

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