Variant report

Variant	rs9491978
Chromosome Location	chr6:128835391-128835392
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128834237..128835841-chr6:128918392..128920731,2	MCF-7	breast:
2	chr6:128834236..128836341-chr6:128977205..128979332,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1341601	0.92[AFR][1000 genomes]
rs17055770	1.00[CHB][hapmap]
rs766305	0.92[AFR][1000 genomes]
rs7749797	0.85[YRI][hapmap]
rs9321123	0.86[AFR][1000 genomes]
rs9482896	0.92[AFR][1000 genomes]
rs9482899	0.80[AFR][1000 genomes]
rs9491979	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9491980	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9491981	0.92[AFR][1000 genomes]
rs9491982	0.92[AFR][1000 genomes]
rs9491987	0.92[AFR][1000 genomes]
rs9491989	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
3	chr6:128821600-128836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:128825800-128840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:128829000-128836400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:128829400-128836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:128829400-128836800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:128829400-128837000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:128829400-128837400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:128829400-128839400	Weak transcription	Colonic Mucosa	Colon
11	chr6:128829400-128839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:128829800-128837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:128830000-128839600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:128830400-128836800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:128830400-128837400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:128831400-128840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:128831600-128839800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:128832200-128839400	Enhancers	Liver	Liver
19	chr6:128832600-128836600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:128832600-128839600	Weak transcription	Gastric	stomach
21	chr6:128832800-128836800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:128832800-128838200	Weak transcription	Right Atrium	heart
23	chr6:128832800-128839600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:128832800-128839800	Weak transcription	Right Ventricle	heart
25	chr6:128833000-128836600	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:128833000-128836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:128833200-128835800	Weak transcription	Fetal Lung	lung
28	chr6:128833200-128836800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:128833200-128837400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:128833200-128837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:128833400-128836800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:128833400-128837200	Enhancers	Brain Substantia Nigra	brain
33	chr6:128833800-128836200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:128833800-128836600	Weak transcription	Fetal Intestine Small	intestine
35	chr6:128833800-128836800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:128833800-128836800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:128833800-128837000	Weak transcription	Fetal Intestine Large	intestine
38	chr6:128833800-128837000	Weak transcription	Hela-S3	cervix
39	chr6:128833800-128837600	Weak transcription	Fetal Kidney	kidney
40	chr6:128834000-128835800	Weak transcription	HMEC	breast
41	chr6:128834000-128836200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:128834000-128836600	Weak transcription	NH-A	brain
43	chr6:128834000-128836800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:128834200-128836400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:128834200-128836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:128834200-128836800	Weak transcription	Osteobl	bone
47	chr6:128834200-128839000	Enhancers	A549	lung
48	chr6:128834400-128836000	Weak transcription	HUVEC	blood vessel
49	chr6:128834400-128836600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:128834400-128837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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