Variant report

Variant	rs34748017
Chromosome Location	chr6:149637535-149637536
allele	A/T
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	MAZ	chr6:149637125-149639723	IMR90	lung:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
2	POLR2A	chr6:149636134-149639393	K562	blood:	n/a	n/a
3	SPI1	chr6:149637338-149637556	K562	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
4	MXI1	chr6:149637512-149637706	K562	blood:	n/a	n/a
5	SPI1	chr6:149637369-149637580	K562	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
6	POLR2A	chr6:149637413-149638870	GM12891	blood:	n/a	n/a
7	SPI1	chr6:149637279-149637685	HL-60	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
8	SPI1	chr6:149637337-149637601	GM12891	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
9	SPI1	chr6:149637223-149637777	HL-60	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
10	SPI1	chr6:149637348-149637544	GM12878	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
11	SPI1	chr6:149637267-149637547	GM12891	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481
12	SPI1	chr6:149637364-149637551	GM12878	blood:	n/a	chr6:149637468-149637481 chr6:149637469-149637482 chr6:149637468-149637481

No.	Distal block	Cell Line	Cell type
1	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
2	chr6:149635359..149638022-chr6:149700186..149702826,2	K562	blood:
3	chr6:149637077..149638837-chr6:149727129..149729209,2	K562	blood:
4	chr6:149557890..149560221-chr6:149637001..149638608,2	MCF-7	breast:
5	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:
6	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
7	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
8	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
9	chr6:149516981..149518503-chr6:149637137..149638798,2	MCF-7	breast:
10	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
11	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:

Variant related genes	Relation type
TAB2	TF binding region
ENSG00000236591	Chromatin interaction
ENSG00000216265	Chromatin interaction
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015360	chr6:149609804-149649982	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3377797	chr6:149637284-149640632	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149628000-149637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:149636600-149637600	Enhancers	Brain Hippocampus Middle	brain
3	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:149636800-149637600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:149637000-149637800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:149637200-149637600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:149637200-149637600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:149637200-149637600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:149637200-149637600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:149637200-149637600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:149637200-149637600	Enhancers	Liver	Liver
13	chr6:149637200-149637600	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:149637200-149637600	Flanking Active TSS	GM12878-XiMat	blood
15	chr6:149637200-149637600	Enhancers	HSMM	muscle
16	chr6:149637200-149637600	Bivalent Enhancer	HUVEC	blood vessel
17	chr6:149637200-149637800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:149637200-149637800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:149637200-149637800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:149637200-149637800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr6:149637200-149639800	Active TSS	K562	blood
22	chr6:149637200-149640000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:149637200-149640200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:149637200-149640200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:149637200-149640400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:149637200-149640400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:149637200-149640800	Active TSS	A549	lung
28	chr6:149637200-149641000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr6:149637400-149637600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:149637400-149637600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:149637400-149637600	Enhancers	Primary B cells from peripheral blood	blood
32	chr6:149637400-149637600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:149637400-149637600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:149637400-149637600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr6:149637400-149637600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:149637400-149637600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:149637400-149637600	Enhancers	Adipose Nuclei	Adipose
38	chr6:149637400-149637600	Enhancers	Brain Germinal Matrix	brain
39	chr6:149637400-149637600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr6:149637400-149637600	Enhancers	Colon Smooth Muscle	Colon
41	chr6:149637400-149637600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr6:149637400-149637600	Enhancers	Fetal Brain Male	brain
43	chr6:149637400-149637600	Active TSS	Fetal Brain Female	brain
44	chr6:149637400-149637600	Flanking Active TSS	Fetal Heart	heart
45	chr6:149637400-149637600	Enhancers	Fetal Intestine Small	intestine
46	chr6:149637400-149637600	Enhancers	Fetal Kidney	kidney
47	chr6:149637400-149637600	Flanking Active TSS	Fetal Lung	lung
48	chr6:149637400-149637600	Active TSS	Fetal Thymus	thymus
49	chr6:149637400-149637600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:149637400-149637600	Flanking Active TSS	NHLF	lung

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