Variant report

Variant	rs57999057
Chromosome Location	chr6:30641292-30641293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:30640421-30641296	SK-N-SH	brain:	n/a	chr6:30640914-30640933 chr6:30640693-30640706
2	ELF1	chr6:30640307-30641325	HCT-116	colon:	n/a	chr6:30640786-30640797
3	HCFC1	chr6:30640219-30641328	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr6:30640121-30641341	MCF-7	breast:	n/a	n/a
5	MXI1	chr6:30640036-30641319	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr6:30640461-30641312	HCT-116	colon:	n/a	chr6:30640917-30640933 chr6:30640911-30640932 chr6:30640919-30640929 chr6:30640916-30640934

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30636079..30638328-chr6:30640966..30643040,2	K562	blood:
2	chr6:30640894..30641573-chr6:30649346..30649858,2	K562	blood:
3	chr6:30607674..30610215-chr6:30640154..30642448,2	K562	blood:
4	chr6:30625710..30628621-chr6:30639335..30642067,3	MCF-7	breast:
5	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
6	chr6:30612907..30616336-chr6:30637849..30642816,6	MCF-7	breast:
7	chr6:30524337..30526594-chr6:30639300..30642011,2	K562	blood:
8	chr6:30608479..30611189-chr6:30639611..30641911,2	MCF-7	breast:
9	chr6:30638422..30642374-chr6:30687329..30691225,7	MCF-7	breast:
10	chr6:30581230..30587315-chr6:30638443..30644329,12	MCF-7	breast:
11	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
12	chr6:30457060..30459448-chr6:30640175..30642005,2	K562	blood:
13	chr6:30579823..30587267-chr6:30636296..30642513,15	MCF-7	breast:
14	chr6:30594510..30596301-chr6:30639461..30642198,2	MCF-7	breast:
15	chr6:30639079..30642784-chr6:30705636..30712325,12	MCF-7	breast:
16	chr2:88315259..88316217-chr6:30640403..30641347,2	Hela-S3	cervix:
17	chr6:30523729..30526402-chr6:30638868..30641840,3	MCF-7	breast:
18	chr6:30456864..30458560-chr6:30640505..30642217,2	K562	blood:

No data

Variant related genes	Relation type
DHX16	TF binding region
ENSG00000272273	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204564	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17292678	1.00[ASN][1000 genomes]
rs2269705	0.83[ASN][1000 genomes]
rs4713346	1.00[ASN][1000 genomes]
rs4713355	0.88[ASN][1000 genomes]
rs58716460	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv823472	chr6:30638581-30644218	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30639200-30641600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:30640000-30641600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:30640000-30641600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:30640800-30641400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:30640800-30643800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:30640800-30643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:30640800-30643800	Weak transcription	Lung	lung
8	chr6:30640800-30643800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:30640800-30643800	Weak transcription	Small Intestine	intestine
10	chr6:30640800-30643800	Weak transcription	Spleen	Spleen
11	chr6:30640800-30643800	Weak transcription	NHDF-Ad	bronchial
12	chr6:30640800-30644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:30640800-30644000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:30640800-30644000	Weak transcription	Esophagus	oesophagus
15	chr6:30640800-30644000	Weak transcription	Pancreas	Pancrea
16	chr6:30640800-30644400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:30640800-30644400	Weak transcription	Aorta	Aorta
18	chr6:30640800-30644400	Weak transcription	Gastric	stomach
19	chr6:30640800-30647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:30640800-30649600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:30641000-30641400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:30641000-30641600	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:30641000-30641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:30641000-30643600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:30641000-30643600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:30641000-30643600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:30641000-30643600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:30641000-30643600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:30641000-30643600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:30641000-30643600	Weak transcription	Adipose Nuclei	Adipose
31	chr6:30641000-30643600	Weak transcription	HSMM	muscle
32	chr6:30641000-30643600	Weak transcription	HSMMtube	muscle
33	chr6:30641000-30643600	Weak transcription	NHEK	skin
34	chr6:30641000-30643600	Weak transcription	NHLF	lung
35	chr6:30641000-30643800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:30641000-30643800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:30641000-30643800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:30641000-30643800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:30641000-30643800	Weak transcription	Placenta	Placenta
40	chr6:30641000-30643800	Weak transcription	Left Ventricle	heart
41	chr6:30641000-30643800	Weak transcription	Ovary	ovary
42	chr6:30641000-30643800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:30641000-30644000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:30641000-30644000	Weak transcription	Colonic Mucosa	Colon
45	chr6:30641000-30644000	Weak transcription	Right Ventricle	heart
46	chr6:30641000-30644200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:30641000-30644400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:30641000-30644400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:30641000-30644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:30641000-30647000	Weak transcription	Stomach Mucosa	stomach

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