Variant report

Variant	rs540715323
Chromosome Location	chr6:109760583-109760584
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:11)
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	POLR2A	chr6:109759972-109762988	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:109759140-109760621	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:109747606..109757389-chr6:109757828..109761794,11	K562	blood:
2	chr6:109415348..109417479-chr6:109760287..109762549,2	K562	blood:
3	chr6:109702383..109706611-chr6:109760202..109762116,4	K562	blood:
4	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
5	chr6:109702022..109707287-chr6:109760251..109763953,8	MCF-7	breast:
6	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:
7	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
8	chr6:109702065..109705528-chr6:109760483..109765471,8	MCF-7	breast:
9	chr6:109747606..109750215-chr6:109758639..109760987,2	K562	blood:
10	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
11	chr6:109752212..109757242-chr6:109759553..109764133,7	MCF-7	breast:

No data

Variant related genes	Relation type
SMPD2	TF binding region
ENSG00000260273	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000112365	Chromatin interaction
ENSG00000239160	Chromatin interaction
ENSG00000185250	Chromatin interaction
ENSG00000080546	Chromatin interaction
ENSG00000135535	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv823818	chr6:109757222-109761294	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3344959	chr6:109760484-109763032	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109721200-109760600	Weak transcription	Fetal Brain Female	brain
2	chr6:109725800-109760800	Weak transcription	Brain Anterior Caudate	brain
3	chr6:109736600-109760800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:109745600-109760800	Weak transcription	Gastric	stomach
5	chr6:109750800-109760800	Weak transcription	Brain Substantia Nigra	brain
6	chr6:109751000-109760800	Weak transcription	Right Atrium	heart
7	chr6:109751200-109761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:109751400-109760800	Weak transcription	Fetal Stomach	stomach
9	chr6:109753800-109760800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:109754000-109760800	Weak transcription	Pancreas	Pancrea
11	chr6:109754800-109760600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:109756000-109760800	Weak transcription	Spleen	Spleen
13	chr6:109756400-109760600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:109756800-109761400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:109757200-109760600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:109758600-109760800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:109758600-109760800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:109758800-109760600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:109758800-109760600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:109759200-109760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:109760000-109760600	Enhancers	Stomach Mucosa	stomach
22	chr6:109760200-109760600	Enhancers	HSMM	muscle
23	chr6:109760200-109760600	Enhancers	HSMMtube	muscle
24	chr6:109760200-109760600	Enhancers	Osteobl	bone
25	chr6:109760200-109760800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:109760200-109760800	Active TSS	Hela-S3	cervix
27	chr6:109760200-109761600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:109760200-109763200	Active TSS	A549	lung
29	chr6:109760400-109760600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:109760400-109760600	Enhancers	Adipose Nuclei	Adipose
31	chr6:109760400-109760600	Enhancers	Placenta	Placenta
32	chr6:109760400-109760600	Enhancers	NHEK	skin
33	chr6:109760400-109760800	Active TSS	Fetal Kidney	kidney
34	chr6:109760400-109760800	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:109760400-109760800	Enhancers	Fetal Muscle Leg	muscle
36	chr6:109760400-109760800	Enhancers	K562	blood
37	chr6:109760400-109761000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:109760400-109761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:109760400-109762400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:109760400-109762400	Active TSS	Duodenum Mucosa	Duodenum
41	chr6:109760400-109762600	Active TSS	Ovary	ovary
42	chr6:109760400-109762600	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:109760400-109762800	Active TSS	Fetal Intestine Small	intestine
44	chr6:109760400-109763400	Active TSS	Pancreatic Islets	Pancreatic Islet

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