Variant report

Variant	rs6913905
Chromosome Location	chr6:38608517-38608518
allele	A/G
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	POLR2A	chr6:38606851-38609084	IMR90	lung:	n/a	n/a
2	CREB1	chr6:38606987-38608621	HepG2	liver:	n/a	n/a
3	HA-E2F1	chr6:38607249-38608659	MCF-7	breast:	n/a	chr6:38607452-38607461 chr6:38607449-38607461
4	REST	chr6:38606890-38608642	H1-neurons	neurons:	n/a	chr6:38606935-38606943 chr6:38606933-38606947 chr6:38607787-38607797

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38565254..38567561-chr6:38606168..38608897,2	MCF-7	breast:
2	chr6:38606797..38609056-chr6:38670128..38671908,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH8-8	chr6:38607926-38617146	NONHSAT112318

Variant related genes	Relation type
BTBD9	TF binding region
ENSG00000183826	Chromatin interaction
ENSG00000124767	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11964942	0.97[AFR][1000 genomes]
rs11966551	0.97[AFR][1000 genomes]
rs11966915	0.97[AFR][1000 genomes]
rs11969592	0.90[AFR][1000 genomes]
rs35812457	0.97[AFR][1000 genomes]
rs57079542	0.97[AFR][1000 genomes]
rs57692374	0.97[AFR][1000 genomes]
rs61507646	0.97[AFR][1000 genomes]
rs6931348	0.97[AFR][1000 genomes]
rs73412330	0.97[AFR][1000 genomes]
rs73412393	0.97[AFR][1000 genomes]
rs73412397	0.97[AFR][1000 genomes]
rs73414307	0.97[AFR][1000 genomes]
rs73414309	0.97[AFR][1000 genomes]
rs73414316	0.97[AFR][1000 genomes]
rs73414319	0.97[AFR][1000 genomes]
rs73414323	0.97[AFR][1000 genomes]
rs73414327	0.97[AFR][1000 genomes]
rs73414339	0.97[AFR][1000 genomes]
rs73414341	0.97[AFR][1000 genomes]
rs73733926	0.97[AFR][1000 genomes]
rs7744175	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38606200-38608800	Active TSS	Right Atrium	heart
2	chr6:38606200-38609000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:38606400-38608600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:38606400-38608800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:38606400-38608800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:38606600-38608600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:38606600-38608800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:38606600-38608800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:38606600-38608800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:38606600-38608800	Active TSS	Ovary	ovary
11	chr6:38606600-38609000	Active TSS	Lung	lung
12	chr6:38606800-38608600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:38606800-38608600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:38606800-38608600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:38606800-38608600	Active TSS	Aorta	Aorta
16	chr6:38606800-38608800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:38606800-38608800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:38606800-38608800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:38606800-38608800	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:38606800-38608800	Active TSS	Stomach Mucosa	stomach
21	chr6:38607000-38608600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:38607000-38608600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:38607000-38608600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:38607000-38608600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:38607000-38608600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:38607000-38608600	Active TSS	Brain Hippocampus Middle	brain
27	chr6:38607000-38608600	Active TSS	Brain Substantia Nigra	brain
28	chr6:38607000-38608600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:38607000-38608600	Active TSS	Fetal Kidney	kidney
30	chr6:38607000-38608600	Active TSS	HMEC	breast
31	chr6:38607000-38608600	Active TSS	HSMMtube	muscle
32	chr6:38607000-38608600	Active TSS	NHEK	skin
33	chr6:38607000-38608800	Active TSS	Fetal Intestine Large	intestine
34	chr6:38607000-38608800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:38607000-38608800	Active TSS	Small Intestine	intestine
36	chr6:38607000-38608800	Active TSS	A549	lung
37	chr6:38607000-38608800	Active TSS	NHDF-Ad	bronchial
38	chr6:38607200-38608600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:38607200-38608600	Active TSS	GM12878-XiMat	blood
40	chr6:38607600-38608800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:38607800-38609000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:38607800-38609200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:38608000-38608600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:38608000-38608600	Flanking Active TSS	Fetal Thymus	thymus
45	chr6:38608000-38608600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr6:38608000-38608600	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr6:38608000-38608600	Flanking Active TSS	NH-A	brain
48	chr6:38608000-38608800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr6:38608000-38608800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr6:38608000-38608800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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