Variant report

Variant	rs7968036
Chromosome Location	chr12:122329875-122329876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:122329653-122330047	K562	blood:	n/a	n/a
2	TBL1XR1	chr12:122329841-122329930	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
2	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
3	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
4	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
5	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
6	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55802359	1.00[AMR][1000 genomes]
rs57510086	1.00[AMR][1000 genomes]
rs58298336	1.00[AMR][1000 genomes]
rs58437343	1.00[AMR][1000 genomes]
rs58651804	1.00[AMR][1000 genomes]
rs58701599	1.00[AMR][1000 genomes]
rs59126522	1.00[AMR][1000 genomes]
rs59378678	1.00[AMR][1000 genomes]
rs61357438	1.00[AMR][1000 genomes]
rs6486796	1.00[AMR][1000 genomes]
rs7133877	1.00[AMR][1000 genomes]
rs7961930	1.00[AMR][1000 genomes]
rs7974950	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122331600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122327600-122331600	Weak transcription	Esophagus	oesophagus
5	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:122327800-122331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:122327800-122331200	Weak transcription	Fetal Kidney	kidney
8	chr12:122327800-122331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:122327800-122331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122327800-122331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:122327800-122331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:122327800-122331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:122328000-122330000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:122328000-122331000	Weak transcription	Right Ventricle	heart
18	chr12:122328000-122331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:122328000-122332400	Enhancers	Fetal Intestine Large	intestine
20	chr12:122328200-122330600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:122328200-122330600	Weak transcription	K562	blood
22	chr12:122328200-122330800	Weak transcription	Thymus	Thymus
23	chr12:122328200-122330800	Weak transcription	A549	lung
24	chr12:122328200-122330800	Weak transcription	HepG2	liver
25	chr12:122328200-122331000	Weak transcription	Brain Substantia Nigra	brain
26	chr12:122328200-122331000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:122328200-122331000	Weak transcription	Gastric	stomach
28	chr12:122328200-122331000	Weak transcription	Pancreas	Pancrea
29	chr12:122328200-122331000	Weak transcription	Hela-S3	cervix
30	chr12:122328200-122331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:122328200-122331200	Weak transcription	Placenta	Placenta
32	chr12:122328200-122331200	Weak transcription	HSMM	muscle
33	chr12:122328200-122331200	Weak transcription	NH-A	brain
34	chr12:122328200-122331400	Weak transcription	Spleen	Spleen
35	chr12:122328200-122331400	Weak transcription	HSMMtube	muscle
36	chr12:122328200-122331400	Weak transcription	HUVEC	blood vessel
37	chr12:122328200-122332000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:122328200-122332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:122328200-122332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
41	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
44	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
45	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
46	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
47	chr12:122328400-122330200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122328400-122330200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:122328400-122330600	Weak transcription	Osteobl	bone
50	chr12:122328400-122330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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