Variant report

Variant	rs531218335
Chromosome Location	chr6:33259241-33259242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33257990-33262052	K562	blood:	n/a	n/a
2	POLR2A	chr6:33258670-33259687	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:33256672-33259552	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr6:33256748-33260558	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr6:33256261-33262240	K562	blood:	n/a	n/a
6	POLR2A	chr6:33256609-33259722	K562	blood:	n/a	n/a
7	POLR2A	chr6:33258726-33259739	K562	blood:	n/a	n/a
8	POLR2A	chr6:33258021-33261304	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:33256458-33262163	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr6:33256661-33261506	K562	blood:	n/a	n/a
11	POLR2A	chr6:33259164-33260577	K562	blood:	n/a	n/a
12	POLR2A	chr6:33256816-33259377	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:33256810-33260619	K562	blood:	n/a	n/a
14	POLR2A	chr6:33257977-33260000	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr6:33258760-33260442	K562	blood:	n/a	n/a
16	POLR2A	chr6:33256573-33259641	MCF-7	breast:	n/a	n/a
17	POLR2A	chr6:33256842-33262829	K562	blood:	n/a	n/a
18	POLR2A	chr6:33256598-33261687	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:33258652-33259293	HCT-116	colon:	n/a	n/a
20	POLR2A	chr6:33256606-33259470	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32937120..32939036-chr6:33257083..33259939,2	MCF-7	breast:
2	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
3	chr6:33256540..33259907-chr6:33358017..33361464,3	MCF-7	breast:
4	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
5	chr6:33173908..33176023-chr6:33257331..33259282,2	K562	blood:
6	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
7	chr6:33258827..33261135-chr6:33395874..33397870,2	K562	blood:

No data

Variant related genes	Relation type
WDR46	TF binding region
ENSG00000223837	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000237649	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	esv3353999	chr6:33258174-33261772	Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33258200-33259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:33258200-33259400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:33258200-33264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:33258200-33265000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:33258200-33265200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:33258400-33259400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:33258400-33259400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:33258400-33259400	Weak transcription	Left Ventricle	heart
9	chr6:33258400-33259400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:33258400-33259400	Weak transcription	NH-A	brain
11	chr6:33258400-33259800	Weak transcription	Aorta	Aorta
12	chr6:33258400-33259800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:33258400-33260000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:33258400-33260200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:33258400-33261200	Strong transcription	Brain Angular Gyrus	brain
16	chr6:33258400-33264600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:33258400-33264800	Weak transcription	Stomach Mucosa	stomach
18	chr6:33258400-33265000	Weak transcription	Right Atrium	heart
19	chr6:33258600-33259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:33258600-33259400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:33258600-33259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:33258600-33259400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:33258600-33259400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:33258600-33259400	Weak transcription	Brain Germinal Matrix	brain
25	chr6:33258600-33259400	Weak transcription	Esophagus	oesophagus
26	chr6:33258600-33259400	Weak transcription	Pancreas	Pancrea
27	chr6:33258600-33259400	Weak transcription	Right Ventricle	heart
28	chr6:33258600-33259400	Weak transcription	Thymus	Thymus
29	chr6:33258600-33261800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr6:33258600-33262000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:33258600-33263400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:33258600-33263800	Strong transcription	Fetal Thymus	thymus
33	chr6:33258600-33264400	Weak transcription	Fetal Heart	heart
34	chr6:33258600-33264400	Strong transcription	Fetal Intestine Large	intestine
35	chr6:33258600-33264600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:33258600-33264600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr6:33258600-33264800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:33258600-33264800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:33258600-33264800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:33258600-33264800	Strong transcription	Brain Hippocampus Middle	brain
41	chr6:33258600-33264800	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:33258600-33264800	Strong transcription	Lung	lung
43	chr6:33258600-33264800	Weak transcription	A549	lung
44	chr6:33258800-33260000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:33258800-33260000	Strong transcription	Fetal Kidney	kidney
46	chr6:33258800-33260200	Strong transcription	HSMM	muscle
47	chr6:33258800-33260400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:33258800-33260400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:33258800-33260600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:33258800-33260800	Strong transcription	Spleen	Spleen

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