Variant report

Variant	rs9446983
Chromosome Location	chr6:74407182-74407183
allele	G/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	STAT3	chr6:74407097-74407220	MCF10A-Er-Src	breast:	n/a	n/a
2	SMARCC1	chr6:74404409-74407235	Hela-S3	cervix:	n/a	chr6:74404981-74404990
3	POLR2A	chr6:74405065-74407421	PBDE	blood:	n/a	n/a
4	FOS	chr6:74407098-74407290	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr6:74406772-74407262	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:74406937-74407289	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr6:74406772-74407496	MCF-7	breast:	n/a	n/a
8	POLR2A	chr6:74404505-74407290	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:74406961-74407260	HCT-116	colon:	n/a	n/a
10	POLR2A	chr6:74404585-74407407	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA2	chr6:74406739-74407260	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:74406942-74407312	Hela-S3	cervix:	n/a	n/a
13	NR2F2	chr6:74406794-74407388	MCF-7	breast:	n/a	n/a
14	POLR2A	chr6:74404553-74407749	HUVEC	blood vessel:	n/a	n/a
15	STAT3	chr6:74407179-74407213	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:74406907-74407259	HCT-116	colon:	n/a	n/a
17	GATA3	chr6:74406827-74407282	MCF-7	breast:	n/a	n/a
18	GATA3	chr6:74406655-74407351	MCF-7	breast:	n/a	n/a
19	FOS	chr6:74407049-74407376	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA3	chr6:74406727-74407405	MCF-7	breast:	n/a	n/a
21	MYC	chr6:74407067-74407267	MCF10A-Er-Src	breast:	n/a	n/a
22	GTF2F1	chr6:74407025-74407418	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74406472..74407423-chr6:74442579..74443307,2	MCF-7	breast:
2	chr6:74405547..74407236-chr6:76311267..76312799,2	MCF-7	breast:
3	chr6:74405938..74408265-chr6:74438560..74441116,2	MCF-7	breast:
4	chr6:74365580..74367470-chr6:74406292..74408552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231652	TF binding region
ENSG00000112701	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs545973	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs56311419	0.82[AFR][1000 genomes]
rs73754658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9360691	1.00[CHD][hapmap]
rs9442945	0.95[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9442948	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446984	0.90[LWK][hapmap]
rs9446985	1.00[AFR][1000 genomes];1.00[AMR][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers 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	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
6	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74404600-74407800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:74405000-74407200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr6:74405000-74407600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:74405000-74408000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr6:74405200-74407200	Active TSS	NHDF-Ad	bronchial
6	chr6:74405200-74407400	Active TSS	Right Atrium	heart
7	chr6:74405200-74407600	Active TSS	NHLF	lung
8	chr6:74405400-74407200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr6:74405600-74407200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:74405800-74407400	Active TSS	Lung	lung
11	chr6:74406000-74407400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr6:74406000-74407400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr6:74406200-74407400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr6:74406200-74407600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:74406400-74407200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr6:74406400-74407200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr6:74406400-74407200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:74406400-74407200	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr6:74406400-74407200	Flanking Active TSS	Osteobl	bone
20	chr6:74406400-74407400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:74406400-74407600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:74406400-74407600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr6:74406400-74407600	Flanking Active TSS	HUVEC	blood vessel
24	chr6:74406600-74407200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:74406600-74407200	Enhancers	Fetal Lung	lung
26	chr6:74406600-74407200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr6:74406600-74407400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:74406600-74407400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:74406600-74407400	Enhancers	Fetal Muscle Leg	muscle
30	chr6:74406600-74407600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:74406600-74407600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:74406600-74407600	Flanking Active TSS	Hela-S3	cervix
33	chr6:74406600-74407600	Flanking Active TSS	NHEK	skin
34	chr6:74406600-74407800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:74406600-74409200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:74406600-74412800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr6:74406600-74414000	Weak transcription	Placenta	Placenta
38	chr6:74406800-74407200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:74406800-74407200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr6:74406800-74407200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr6:74406800-74407200	Flanking Active TSS	Thymus	Thymus
42	chr6:74406800-74407200	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr6:74406800-74407200	Flanking Active TSS	HMEC	breast
44	chr6:74406800-74407200	Flanking Active TSS	HSMM	muscle
45	chr6:74406800-74407400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:74406800-74407400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:74406800-74407600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:74406800-74407600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:74406800-74407600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:74406800-74407800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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