Variant report

Variant	rs9311342
Chromosome Location	chr3:43734999-43735000
allele	C/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	POLR2A	chr3:43730737-43736249	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr3:43734377-43735134	PBDE	blood:	n/a	chr3:43734393-43734409 chr3:43734928-43734941
3	POLR2A	chr3:43734967-43735604	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr3:43734342-43735465	Hela-S3	cervix:	n/a	n/a
5	TBL1XR1	chr3:43734706-43735057	K562	blood:	n/a	n/a
6	JUND	chr3:43734851-43735554	K562	blood:	n/a	chr3:43735355-43735363 chr3:43735355-43735363 chr3:43735354-43735364 chr3:43735354-43735364 chr3:43735354-43735364 chr3:43735354-43735364 chr3:43735355-43735362 chr3:43735367-43735376
7	MXI1	chr3:43731657-43735127	SK-N-SH	brain:	n/a	n/a
8	EP300	chr3:43734158-43735546	K562	blood:	n/a	chr3:43735365-43735379 chr3:43735234-43735248 chr3:43735355-43735364
9	RCOR1	chr3:43733678-43735077	K562	blood:	n/a	n/a
10	TEAD4	chr3:43733461-43735546	K562	blood:	n/a	n/a
11	ZNF384	chr3:43734998-43736087	K562	blood:	n/a	n/a
12	EP300	chr3:43734525-43735486	Hela-S3	cervix:	n/a	chr3:43735365-43735379 chr3:43735234-43735248 chr3:43735355-43735364
13	JUN	chr3:43731041-43735670	K562	blood:	n/a	chr3:43735355-43735363 chr3:43733738-43733747 chr3:43735355-43735363 chr3:43735354-43735364 chr3:43735354-43735364 chr3:43735354-43735364 chr3:43732235-43732244 chr3:43732667-43732674 chr3:43735354-43735364 chr3:43735355-43735362 chr3:43732623-43732632 chr3:43735367-43735376

No.	Distal block	Cell Line	Cell type
1	chr3:43732444..43735395-chr3:43752616..43755660,3	K562	blood:
2	chr3:43733603..43735980-chr3:43767151..43770128,2	MCF-7	breast:
3	chr3:43733820..43735809-chr3:43759863..43762961,3	K562	blood:
4	chr3:43732327..43735197-chr3:43758146..43760673,2	MCF-7	breast:
5	chr3:43659494..43665311-chr3:43727005..43736111,18	K562	blood:
6	chr3:43588935..43590972-chr3:43733450..43736043,2	K562	blood:
7	chr3:43734084..43735791-chr3:43750065..43752482,2	MCF-7	breast:
8	chr3:43660817..43665304-chr3:43729750..43735886,13	K562	blood:

Variant related genes	Relation type
ANO10	TF binding region
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12495394	1.00[AMR][1000 genomes]
rs12497714	1.00[AMR][1000 genomes]
rs4618196	1.00[AMR][1000 genomes]
rs4682688	1.00[AMR][1000 genomes]
rs4682889	1.00[AMR][1000 genomes]
rs58089657	1.00[AMR][1000 genomes]
rs6767741	1.00[AMR][1000 genomes]
rs72866835	1.00[AMR][1000 genomes]
rs72866841	1.00[AMR][1000 genomes]
rs72866848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866873	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7618790	1.00[AMR][1000 genomes]
rs7620124	1.00[AMR][1000 genomes]
rs7628620	1.00[AMR][1000 genomes]
rs7647197	1.00[AMR][1000 genomes]
rs9757381	1.00[AMR][1000 genomes]
rs9816915	0.91[AFR][1000 genomes]
rs9863775	1.00[AMR][1000 genomes]
rs9872346	1.00[AMR][1000 genomes]
rs9876963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43732200-43735200	Active TSS	GM12878-XiMat	blood
2	chr3:43733200-43735200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr3:43733200-43735200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:43733200-43747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:43733200-43749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:43733400-43735000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr3:43733400-43737400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:43733400-43743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:43733400-43743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:43733400-43743800	Weak transcription	Ovary	ovary
11	chr3:43733400-43753200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:43733400-43767800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:43733600-43735000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:43733600-43735000	Flanking Active TSS	Hela-S3	cervix
15	chr3:43733600-43735200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:43733600-43735200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr3:43733600-43735600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:43733600-43735600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:43733600-43735600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr3:43733600-43736000	Enhancers	Small Intestine	intestine
21	chr3:43733600-43736200	Flanking Active TSS	NHEK	skin
22	chr3:43733600-43736600	Enhancers	Placenta	Placenta
23	chr3:43733600-43753600	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:43733600-43767400	Weak transcription	Fetal Brain Male	brain
25	chr3:43733600-43768000	Weak transcription	Fetal Kidney	kidney
26	chr3:43733800-43735000	Active TSS	Primary hematopoietic stem cells	blood
27	chr3:43733800-43735000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:43733800-43735000	Transcr. at gene 5' and 3'	K562	blood
29	chr3:43733800-43735200	Enhancers	HepG2	liver
30	chr3:43733800-43735200	Flanking Active TSS	NHLF	lung
31	chr3:43733800-43735400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr3:43733800-43736800	Enhancers	A549	lung
33	chr3:43733800-43737200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr3:43733800-43741800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:43733800-43743800	Weak transcription	Fetal Stomach	stomach
36	chr3:43733800-43749400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:43734000-43735000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:43734000-43735200	Enhancers	Stomach Mucosa	stomach
39	chr3:43734000-43735400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:43734000-43735400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:43734000-43737400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:43734000-43745800	Weak transcription	Fetal Heart	heart
43	chr3:43734000-43751800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:43734000-43753200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:43734200-43735000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:43734200-43735400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:43734200-43737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:43734200-43738600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:43734200-43741000	Enhancers	Fetal Intestine Large	intestine
50	chr3:43734200-43741800	Weak transcription	Rectal Mucosa Donor 29	rectum

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