Variant report

Variant	rs12205852
Chromosome Location	chr6:117855087-117855088
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	NR3C1	chr6:117855009-117855263	A549	lung:	n/a	n/a
2	NR3C1	chr6:117854988-117855303	A549	lung:	n/a	chr6:117855270-117855288
3	NR3C1	chr6:117854901-117855308	A549	lung:	n/a	chr6:117855270-117855288
4	REST	chr6:117855031-117855297	SK-N-SH	brain:	n/a	chr6:117855149-117855158 chr6:117855147-117855160
5	POLR2A	chr6:117855013-117855170	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117853802..117856320-chr6:117864462..117867006,2	K562	blood:
2	chr6:117814039..117815836-chr6:117854850..117856525,2	MCF-7	breast:
3	chr6:117853315..117855226-chr6:117864932..117867636,2	MCF-7	breast:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10484301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11153674	1.00[CHB][hapmap]
rs11751773	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12193035	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12196716	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12197399	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12200953	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12208894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12210860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17637404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818735	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2134088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72963484	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72963492	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965515	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745302	1.00[JPT][hapmap]
rs916305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs929059	1.00[JPT][hapmap]
rs9320605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9481727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9489143	1.00[CHB][hapmap]
rs9688605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9766117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9766656	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9766945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9766959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9767675	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
2	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:117823200-117868800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:117823200-117869600	Weak transcription	Small Intestine	intestine
5	chr6:117826400-117859800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:117828000-117866200	Weak transcription	Esophagus	oesophagus
7	chr6:117834400-117861800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:117834400-117863600	Weak transcription	Gastric	stomach
9	chr6:117834800-117857400	Weak transcription	Aorta	Aorta
10	chr6:117834800-117860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:117835200-117868800	Weak transcription	Colonic Mucosa	Colon
12	chr6:117835400-117868800	Weak transcription	Psoas Muscle	Psoas
13	chr6:117835800-117857600	Weak transcription	Placenta	Placenta
14	chr6:117836600-117861800	Weak transcription	Pancreas	Pancrea
15	chr6:117836600-117869600	Weak transcription	Stomach Mucosa	stomach
16	chr6:117837200-117860600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:117838600-117869000	Weak transcription	Ovary	ovary
18	chr6:117842000-117860600	Weak transcription	Fetal Stomach	stomach
19	chr6:117842800-117866200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:117845200-117866200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:117845800-117868800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:117846800-117869600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:117847400-117857600	Weak transcription	NHEK	skin
24	chr6:117847600-117861800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:117848600-117856800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:117849800-117857400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:117851800-117856200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:117851800-117859800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:117851800-117860600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:117851800-117868800	Weak transcription	Right Ventricle	heart
31	chr6:117852200-117857200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:117852400-117857400	Strong transcription	HMEC	breast
33	chr6:117852400-117858600	Strong transcription	HepG2	liver
34	chr6:117852600-117855400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:117852600-117855400	Strong transcription	A549	lung
36	chr6:117852600-117857400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:117852600-117861400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:117852800-117855200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:117852800-117857600	Weak transcription	NHLF	lung
40	chr6:117852800-117859400	Weak transcription	Adipose Nuclei	Adipose
41	chr6:117852800-117859800	Weak transcription	GM12878-XiMat	blood
42	chr6:117852800-117863600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:117852800-117867800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:117853000-117861400	Weak transcription	Fetal Lung	lung
45	chr6:117853200-117855400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:117853200-117857600	Weak transcription	HSMMtube	muscle
47	chr6:117853200-117857800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:117853200-117861800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:117853200-117862600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:117853200-117868600	Strong transcription	Muscle Satellite Cultured Cells	--

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