Variant report

Variant	rs574487419
Chromosome Location	chr7:121083039-121083040
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	SMC3	chr7:121082969-121083043	GM12878	blood:	n/a	n/a
2	FOS	chr7:121083030-121083313	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
3	EBF1	chr7:121083032-121083100	GM12878	blood:	n/a	n/a
4	FOS	chr7:121082993-121083310	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
5	MAFK	chr7:121083036-121083266	K562	blood:	n/a	n/a
6	CUX1	chr7:121083011-121083211	K562	blood:	n/a	n/a
7	JUND	chr7:121083007-121083267	K562	blood:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
8	FOS	chr7:121083006-121083337	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190

No.	Distal block	Cell Line	Cell type
1	chr7:121082938..121085924-chr7:121112606..121114729,2	K562	blood:
2	chr7:121073008..121075987-chr7:121081368..121083333,2	K562	blood:
3	chr7:121082501..121084474-chr7:121087406..121089640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234985	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active 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	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2757238	chr7:121059871-121089955	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759559	chr7:121059871-121089955	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3343950	chr7:121082741-121084939	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121078600-121086600	Weak transcription	NHDF-Ad	bronchial
2	chr7:121078800-121087400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:121079000-121095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:121081000-121083200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:121081200-121086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:121081200-121088400	Weak transcription	Left Ventricle	heart
7	chr7:121081400-121083200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:121081400-121086600	Weak transcription	Adipose Nuclei	Adipose
9	chr7:121081400-121088400	Weak transcription	Placenta	Placenta
10	chr7:121081600-121083200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:121081600-121083200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:121081600-121086600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:121081800-121086200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:121082400-121083200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:121082600-121083200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:121082600-121083200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:121082800-121083200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:121082800-121083200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:121082800-121083200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:121082800-121083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:121082800-121083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:121082800-121083200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:121082800-121083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:121082800-121083200	Enhancers	Esophagus	oesophagus
25	chr7:121082800-121083200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:121082800-121083200	Enhancers	Fetal Thymus	thymus
27	chr7:121082800-121083200	Enhancers	Hela-S3	cervix
28	chr7:121082800-121083200	Enhancers	NHEK	skin
29	chr7:121082800-121083400	Enhancers	HMEC	breast
30	chr7:121083000-121083200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:121083000-121083200	Enhancers	Pancreas	Pancrea
32	chr7:121083000-121083200	Enhancers	Thymus	Thymus
33	chr7:121083000-121083200	Bivalent Enhancer	K562	blood

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