Variant report

Variant	rs1678964
Chromosome Location	chr12:122350333-122350334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IKZF1	chr12:122350107-122350495	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:122349952-122350594	GM12878	blood:	n/a	n/a
3	BATF	chr12:122350277-122350492	GM12878	blood:	n/a	n/a
4	BATF	chr12:122350206-122350539	GM12878	blood:	n/a	n/a
5	ATF2	chr12:122350161-122350512	GM12878	blood:	n/a	n/a
6	YY1	chr12:122350116-122350430	GM12878	blood:	n/a	n/a
7	MTA3	chr12:122350108-122350555	GM12878	blood:	n/a	n/a
8	EBF1	chr12:122349975-122350406	GM12878	blood:	n/a	n/a
9	RUNX3	chr12:122349963-122350597	GM12878	blood:	n/a	n/a
10	NFIC	chr12:122350125-122350626	GM12878	blood:	n/a	n/a
11	YY1	chr12:122350160-122350405	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122341924..122344518-chr12:122348746..122350833,2	K562	blood:
2	chr12:122347828..122351809-chr12:122352834..122355528,3	K562	blood:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000256950	TF binding region
ENSG00000256950	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10840628	0.96[EUR][1000 genomes]
rs10840629	0.90[EUR][1000 genomes]
rs11043224	0.96[EUR][1000 genomes]
rs11043236	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620335	0.94[EUR][1000 genomes]
rs2707072	0.96[EUR][1000 genomes]
rs4544045	0.96[EUR][1000 genomes]
rs61093646	0.96[EUR][1000 genomes]
rs7137218	0.81[YRI][hapmap]
rs7962746	0.96[EUR][1000 genomes]
rs7978403	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7979818	0.94[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
2	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
3	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122331600-122355600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:122331800-122351800	Strong transcription	Dnd41	blood
11	chr12:122332000-122350400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr12:122332000-122354600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:122332200-122351000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:122332400-122350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:122332400-122350800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:122332400-122355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:122332400-122355600	Strong transcription	Fetal Intestine Small	intestine
19	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:122332600-122350800	Strong transcription	Placenta	Placenta
21	chr12:122332600-122352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122332600-122355400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:122332600-122355600	Strong transcription	Fetal Intestine Large	intestine
24	chr12:122332800-122355000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:122332800-122355400	Strong transcription	Liver	Liver
26	chr12:122332800-122355600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr12:122333000-122350600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:122333000-122353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:122333000-122356000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:122333200-122350400	Strong transcription	Thymus	Thymus
31	chr12:122335800-122351000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:122336400-122356000	Strong transcription	Adipose Nuclei	Adipose
33	chr12:122338000-122356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122338200-122350600	Strong transcription	Osteobl	bone
35	chr12:122339000-122350400	Strong transcription	NHLF	lung
36	chr12:122340800-122353600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:122341000-122350600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:122341000-122356000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:122341400-122355800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:122341600-122353400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:122341600-122356000	Weak transcription	Fetal Heart	heart
42	chr12:122341600-122356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:122341800-122355600	Weak transcription	Stomach Mucosa	stomach
44	chr12:122342000-122353400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:122342000-122353400	Weak transcription	HUVEC	blood vessel
46	chr12:122342200-122353400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:122342200-122356000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:122343200-122353800	Weak transcription	Small Intestine	intestine
49	chr12:122344000-122355800	Strong transcription	Brain Germinal Matrix	brain
50	chr12:122344200-122353600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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