Variant report

Variant	rs542519363
Chromosome Location	chr6:30715637-30715638
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	chr6:30715116-30717455	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr6:30714974-30717727	HUVEC	blood vessel:	n/a	n/a
3	CEBPB	chr6:30715550-30716058	Hela-S3	cervix:	n/a	chr6:30715647-30715658 chr6:30715647-30715658
4	TCF12	chr6:30715631-30718180	A549	lung:	n/a	chr6:30716310-30716319
5	CEBPB	chr6:30715539-30716074	IMR90	lung:	n/a	chr6:30715647-30715658 chr6:30715647-30715658
6	POLR2A	chr6:30715059-30717511	HUVEC	blood vessel:	n/a	n/a
7	CEBPB	chr6:30715637-30716387	A549	lung:	n/a	chr6:30715647-30715658 chr6:30715647-30715658
8	GATA2	chr6:30715095-30717366	HUVEC	blood vessel:	n/a	chr6:30716241-30716248 chr6:30716237-30716253 chr6:30716237-30716253 chr6:30716241-30716248 chr6:30715588-30715597 chr6:30716519-30716527 chr6:30716241-30716248 chr6:30716234-30716255 chr6:30716242-30716259

No.	Distal block	Cell Line	Cell type
1	chr6:30715564..30717790-chr6:30842191..30844765,2	K562	blood:
2	chr6:30703666..30722133-chr6:30776009..30801352,184	MCF-7	breast:
3	chr6:30580426..30582836-chr6:30715158..30716772,2	MCF-7	breast:
4	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
5	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
6	chr6:30703055..30723531-chr6:30783853..30800217,151	MCF-7	breast:

Variant related genes	Relation type
IER3	TF binding region
RN7SL353P	TF binding region
ENSG00000214894	Chromatin interaction
ENSG00000237775	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	406 gene(s)	inside rSNPs	diseases
6	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
8	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
11	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
12	nsv884102	chr6:30706013-30720567	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases
13	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	esv18724	chr6:30715634-30716191	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30712200-30719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:30712400-30715800	Weak transcription	Lung	lung
3	chr6:30712600-30715800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:30712600-30715800	Weak transcription	Left Ventricle	heart
5	chr6:30712600-30715800	Weak transcription	Thymus	Thymus
6	chr6:30712600-30715800	Enhancers	NHEK	skin
7	chr6:30712600-30716200	Weak transcription	HSMMtube	muscle
8	chr6:30712600-30716400	Weak transcription	Ovary	ovary
9	chr6:30712600-30716400	Enhancers	Stomach Mucosa	stomach
10	chr6:30712600-30716400	Enhancers	HUVEC	blood vessel
11	chr6:30712600-30719400	Weak transcription	Brain Anterior Caudate	brain
12	chr6:30712600-30719400	Weak transcription	Psoas Muscle	Psoas
13	chr6:30712600-30719600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:30712600-30719600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:30712600-30724000	Enhancers	HMEC	breast
16	chr6:30712800-30716400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:30712800-30716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:30712800-30716400	Weak transcription	Fetal Lung	lung
19	chr6:30712800-30716600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:30712800-30716600	Weak transcription	Liver	Liver
21	chr6:30712800-30716600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr6:30712800-30717600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:30712800-30718400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:30712800-30719400	Weak transcription	Right Ventricle	heart
25	chr6:30712800-30720000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:30713000-30715800	Weak transcription	Right Atrium	heart
27	chr6:30713000-30716000	Enhancers	A549	lung
28	chr6:30713000-30717600	Weak transcription	Adipose Nuclei	Adipose
29	chr6:30713000-30719400	Weak transcription	Fetal Stomach	stomach
30	chr6:30713200-30715800	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:30713200-30716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:30713200-30716000	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:30713200-30716600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:30713200-30716600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:30713200-30716600	Enhancers	Hela-S3	cervix
36	chr6:30713200-30716800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:30713200-30719200	Weak transcription	Fetal Heart	heart
38	chr6:30713200-30719200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:30713400-30716400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:30713400-30716400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:30713400-30716600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:30713400-30717200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:30714200-30721200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:30714400-30716200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:30714400-30718600	Enhancers	Pancreas	Pancrea
46	chr6:30714600-30716000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:30714600-30716400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:30714600-30717200	Enhancers	Placenta	Placenta
49	chr6:30714800-30719600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:30715000-30717200	Enhancers	NHLF	lung

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