Variant report

Variant	rs6941249
Chromosome Location	chr6:30555785-30555786
allele	C/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	POLR2A	chr6:30555539-30555788	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:30554546-30556073	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ABCF1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61123281	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427102	1.00[ASN][1000 genomes]
rs73429072	1.00[ASN][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS 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 miRNA target site	772 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30540400-30563000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:30540800-30560800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr6:30540800-30563600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:30540800-30563600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:30540800-30563800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
9	chr6:30541600-30563000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:30541800-30558000	Strong transcription	NHLF	lung
11	chr6:30541800-30562800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:30542000-30562800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:30542200-30556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:30542200-30557800	Strong transcription	Placenta	Placenta
16	chr6:30542200-30563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:30542200-30564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
19	chr6:30542600-30558400	Strong transcription	Fetal Thymus	thymus
20	chr6:30542800-30563400	Strong transcription	Fetal Stomach	stomach
21	chr6:30543000-30562800	Strong transcription	Thymus	Thymus
22	chr6:30543200-30557200	Strong transcription	Fetal Lung	lung
23	chr6:30543200-30557600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:30543200-30557800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:30543200-30557800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:30543200-30558000	Strong transcription	Lung	lung
27	chr6:30543200-30558000	Strong transcription	Osteobl	bone
28	chr6:30543200-30558200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:30543200-30560400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:30543200-30562800	Strong transcription	Adipose Nuclei	Adipose
31	chr6:30543200-30563000	Strong transcription	Fetal Brain Female	brain
32	chr6:30543200-30563000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:30543200-30563000	Strong transcription	Fetal Muscle Leg	muscle
34	chr6:30543200-30563400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr6:30543200-30563400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:30543200-30563600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:30543400-30557400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:30543400-30560600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr6:30543400-30560800	Strong transcription	Brain Hippocampus Middle	brain
40	chr6:30543400-30563000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:30543400-30563000	Strong transcription	Primary T cells from cord blood	blood
42	chr6:30543400-30563000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:30543400-30563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:30543600-30557600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:30543600-30557600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:30543600-30562600	Strong transcription	HepG2	liver
47	chr6:30543600-30563000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:30543600-30563400	Strong transcription	Dnd41	blood
49	chr6:30543800-30558600	Strong transcription	Fetal Intestine Small	intestine
50	chr6:30543800-30562800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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