Variant report

Variant	rs2970813
Chromosome Location	chr12:4641892-4641893
allele	A/T
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	GATA3	chr12:4641595-4641995	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4639152..4642726-chr12:4646208..4648490,3	MCF-7	breast:

Variant related genes	Relation type
C12orf4	TF binding region
ENSG00000111247	Chromatin interaction
ENSG00000047621	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11063175	1.00[AMR][1000 genomes]
rs11063176	1.00[AMR][1000 genomes]
rs12320287	1.00[AMR][1000 genomes]
rs2907497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909382	1.00[AMR][1000 genomes]
rs2970811	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970814	1.00[AMR][1000 genomes]
rs2970816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970817	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970825	1.00[AMR][1000 genomes]
rs6489554	1.00[AMR][1000 genomes]
rs7136895	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972349	1.00[AMR][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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
2	chr12:4594400-4646400	Weak transcription	NHLF	lung
3	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
5	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
7	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:4615000-4642200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:4615000-4646400	Weak transcription	Fetal Heart	heart
15	chr12:4616400-4646000	Weak transcription	HepG2	liver
16	chr12:4617000-4646600	Weak transcription	NHEK	skin
17	chr12:4624400-4645400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:4624400-4646400	Weak transcription	K562	blood
19	chr12:4627600-4645600	Weak transcription	HMEC	breast
20	chr12:4627600-4646600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:4629200-4647000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:4629600-4642400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:4629600-4647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:4629600-4647200	Weak transcription	Gastric	stomach
25	chr12:4629800-4646600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:4629800-4647000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:4630000-4645400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:4630000-4646400	Weak transcription	Brain Germinal Matrix	brain
29	chr12:4631600-4644600	Strong transcription	Dnd41	blood
30	chr12:4633600-4642400	Weak transcription	A549	lung
31	chr12:4634000-4642400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:4634200-4642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:4634400-4646200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:4634800-4644200	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:4635000-4642400	Weak transcription	NHDF-Ad	bronchial
36	chr12:4636200-4645400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:4636600-4645400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:4636800-4645200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:4637000-4644800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:4637200-4644600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:4637200-4644600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:4637200-4644600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr12:4637400-4644600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:4637400-4644800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:4637600-4644600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:4638200-4642000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:4638200-4644400	Strong transcription	Adipose Nuclei	Adipose
48	chr12:4638400-4642000	Strong transcription	Brain Anterior Caudate	brain
49	chr12:4638400-4643400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr12:4638400-4643800	Strong transcription	Rectal Mucosa Donor 29	rectum

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