Variant report

Variant	rs148040365
Chromosome Location	chr6:33365873-33365874
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33365786-33366179	K562	blood:	n/a	n/a
2	POLR2A	chr6:33365137-33366257	K562	blood:	n/a	n/a
3	POLR2A	chr6:33365701-33366023	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33362550..33366699-chr6:33373091..33374833,4	MCF-7	breast:
2	chr6:33289755..33292070-chr6:33364060..33366187,2	MCF-7	breast:
3	chr6:33255817..33257369-chr6:33364679..33367095,2	K562	blood:
4	chr6:33363619..33367715-chr6:33369432..33373076,4	K562	blood:
5	chr6:33365854..33369434-chr6:33385468..33388336,3	K562	blood:

No data

Variant related genes	Relation type
KIFC1	TF binding region
ENSG00000204220	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000227057	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	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
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv969387	chr6:33365795-33371279	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
3	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
4	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
5	chr6:33360400-33377600	Weak transcription	Lung	lung
6	chr6:33360800-33371000	Weak transcription	Placenta	Placenta
7	chr6:33360800-33371200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:33360800-33377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:33361000-33371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:33361000-33371200	Weak transcription	Gastric	stomach
11	chr6:33361000-33371400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:33361000-33372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:33361000-33377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:33361200-33366000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:33361200-33366600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:33361200-33370600	Weak transcription	Fetal Intestine Large	intestine
17	chr6:33361200-33371000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:33361200-33371200	Weak transcription	Spleen	Spleen
19	chr6:33361200-33371400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:33361200-33377200	Weak transcription	Colonic Mucosa	Colon
21	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:33361400-33371200	Weak transcription	Fetal Kidney	kidney
23	chr6:33361600-33369800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:33361600-33377200	Weak transcription	Primary B cells from cord blood	blood
25	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:33362400-33371200	Weak transcription	Fetal Brain Female	brain
27	chr6:33362800-33376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:33363000-33376400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:33363000-33376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:33363200-33369200	Weak transcription	Fetal Lung	lung
31	chr6:33363200-33370600	Weak transcription	A549	lung
32	chr6:33363200-33371400	Weak transcription	Brain Germinal Matrix	brain
33	chr6:33363200-33377200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:33363200-33377200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:33363400-33366000	Genic enhancers	Dnd41	blood
36	chr6:33363400-33367200	Weak transcription	NHDF-Ad	bronchial
37	chr6:33363400-33371000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:33363400-33376400	Strong transcription	Fetal Thymus	thymus
39	chr6:33363400-33377200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:33363400-33377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:33363600-33366600	Weak transcription	NH-A	brain
42	chr6:33364000-33366800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:33364000-33368400	Weak transcription	NHLF	lung
44	chr6:33364000-33377200	Weak transcription	Fetal Heart	heart
45	chr6:33364600-33367600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:33364800-33367800	Strong transcription	HMEC	breast
47	chr6:33364800-33368400	Strong transcription	Thymus	Thymus
48	chr6:33365200-33376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:33365400-33366000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:33365400-33366000	Genic enhancers	GM12878-XiMat	blood

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