Variant report

Variant	rs6774011
Chromosome Location	chr3:46037871-46037872
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	ZNF263	chr3:46036724-46037960	HEK293-T-REx	kidney:	n/a	n/a
2	HCFC1	chr3:46036468-46038390	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr3:46035916-46038082	IMR90	lung:	n/a	chr3:46036468-46036478 chr3:46036480-46036496 chr3:46036471-46036478 chr3:46036529-46036539 chr3:46036469-46036478
4	JUND	chr3:46037762-46037874	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr3:46037846-46038028	K562	blood:	n/a	n/a
6	POLR2A	chr3:46036293-46037936	MCF10A-Er-Src	breast:	n/a	n/a
7	BHLHE40	chr3:46037177-46037946	HepG2	liver:	n/a	n/a
8	SPI1	chr3:46037732-46038192	HL-60	blood:	n/a	n/a
9	JUN	chr3:46035785-46037969	K562	blood:	n/a	chr3:46035830-46035839
10	MAX	chr3:46036731-46037914	A549	lung:	n/a	n/a
11	MAX	chr3:46036977-46037910	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr3:46036696-46037930	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr3:46036118-46037959	HCT-116	colon:	n/a	chr3:46036468-46036478 chr3:46036491-46036501 chr3:46036449-46036459 chr3:46036480-46036496 chr3:46036471-46036478 chr3:46036529-46036539 chr3:46036469-46036478
14	MXI1	chr3:46035504-46037930	SK-N-SH	brain:	n/a	chr3:46037020-46037029
15	ARID3A	chr3:46037100-46037950	HepG2	liver:	n/a	n/a
16	MAX	chr3:46036833-46037905	A549	lung:	n/a	n/a
17	E2F6	chr3:46036836-46037956	H1-hESC	embryonic stem cell:	n/a	chr3:46036852-46036862
18	ZNF143	chr3:46036928-46038014	K562	blood:	n/a	chr3:46037362-46037380 chr3:46037394-46037403 chr3:46037328-46037346 chr3:46037396-46037405 chr3:46037330-46037339 chr3:46037889-46037908 chr3:46037394-46037412 chr3:46037328-46037337
19	MAX	chr3:46035983-46038016	NB4	blood:	n/a	chr3:46036468-46036478 chr3:46036491-46036501 chr3:46036449-46036459 chr3:46036480-46036496 chr3:46036471-46036478 chr3:46036529-46036539 chr3:46036469-46036478

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45979978..45982491-chr3:46035904..46038054,2	MCF-7	breast:
2	chr3:46036059..46037983-chr3:46447594..46449867,2	K562	blood:

Variant related genes	Relation type
FYCO1	TF binding region
ENSG00000172215	Chromatin interaction
ENSG00000121797	Chromatin interaction
ENSG00000223552	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12330199	1.00[EUR][1000 genomes]
rs13315494	1.00[EUR][1000 genomes]
rs13316935	1.00[EUR][1000 genomes]
rs13317076	1.00[EUR][1000 genomes]
rs2234359	1.00[EUR][1000 genomes]
rs28670183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41395345	1.00[EUR][1000 genomes]
rs73830784	1.00[EUR][1000 genomes]
rs7613756	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626225	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7637926	1.00[EUR][1000 genomes]
rs9311389	1.00[EUR][1000 genomes]
rs9810947	0.85[AFR][1000 genomes]
rs9811093	1.00[EUR][1000 genomes]
rs9814852	1.00[EUR][1000 genomes]
rs9819293	0.83[AFR][1000 genomes]
rs9824752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9829016	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9831791	1.00[EUR][1000 genomes]
rs9833683	1.00[EUR][1000 genomes]
rs9835366	1.00[EUR][1000 genomes]
rs9838832	1.00[EUR][1000 genomes]
rs9841919	1.00[EUR][1000 genomes]
rs9846033	0.83[AFR][1000 genomes]
rs9856418	1.00[EUR][1000 genomes]
rs9858301	1.00[EUR][1000 genomes]
rs9859087	1.00[EUR][1000 genomes]
rs9870657	1.00[EUR][1000 genomes]
rs9875356	1.00[EUR][1000 genomes]
rs9882765	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46036000-46038000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr3:46036200-46038000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:46036200-46038000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:46036200-46038000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:46036200-46038000	Active TSS	Fetal Kidney	kidney
6	chr3:46036200-46038000	Active TSS	A549	lung
7	chr3:46036400-46038000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr3:46036600-46038000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr3:46037400-46038000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:46037400-46038000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr3:46037400-46038000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:46037400-46038000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:46037400-46038000	Flanking Active TSS	K562	blood
14	chr3:46037400-46038200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr3:46037400-46038200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr3:46037400-46038200	Flanking Active TSS	Dnd41	blood
17	chr3:46037400-46038200	Flanking Active TSS	GM12878-XiMat	blood
18	chr3:46037400-46038200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:46037600-46038000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:46037600-46038000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr3:46037600-46038000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:46037600-46038000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:46037600-46038000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:46037600-46038000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:46037600-46038000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:46037600-46038000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:46037600-46038000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr3:46037600-46038000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr3:46037600-46038000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr3:46037600-46038000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr3:46037600-46038000	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr3:46037600-46038200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr3:46037600-46038200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:46037600-46038200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr3:46037600-46038200	Enhancers	Fetal Thymus	thymus
36	chr3:46037600-46038200	Enhancers	Pancreas	Pancrea
37	chr3:46037600-46038200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr3:46037600-46038200	Enhancers	Small Intestine	intestine
39	chr3:46037600-46038200	Enhancers	Spleen	Spleen
40	chr3:46037600-46038200	Flanking Active TSS	Hela-S3	cervix
41	chr3:46037600-46038800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:46037600-46053000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:46037600-46064600	Weak transcription	Gastric	stomach
44	chr3:46037800-46038000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:46037800-46038000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:46037800-46038000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr3:46037800-46038000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr3:46037800-46038000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr3:46037800-46038000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:46037800-46038000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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