Variant report

Variant	rs540805312
Chromosome Location	chr7:70061812-70061813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv522876	chr7:70050442-70071979	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70060200-70062000	Bivalent Enhancer	Placenta	Placenta
2	chr7:70060200-70062600	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr7:70060400-70064600	Active TSS	Brain Anterior Caudate	brain
4	chr7:70060600-70062000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr7:70060600-70062200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:70060600-70062400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr7:70060600-70062400	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:70060800-70062000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr7:70060800-70062200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr7:70060800-70063200	Active TSS	Esophagus	oesophagus
11	chr7:70061000-70062000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:70061000-70062200	Active TSS	Brain Substantia Nigra	brain
13	chr7:70061000-70063600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:70061400-70062000	Flanking Active TSS	HMEC	breast
15	chr7:70061400-70062600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:70061600-70062000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr7:70061600-70062000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:70061600-70062000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:70061600-70062200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:70061600-70062200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr7:70061600-70062200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:70061600-70062200	Flanking Active TSS	Liver	Liver
23	chr7:70061600-70062200	Weak transcription	Right Atrium	heart
24	chr7:70061600-70062400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr7:70061600-70062400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr7:70061600-70062400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr7:70061600-70064000	Weak transcription	Left Ventricle	heart
28	chr7:70061600-70069200	Weak transcription	Ovary	ovary
29	chr7:70061800-70062000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:70061800-70062000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:70061800-70062000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr7:70061800-70062000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:70061800-70062000	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr7:70061800-70062000	Enhancers	GM12878-XiMat	blood
35	chr7:70061800-70062400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr7:70061800-70062400	Active TSS	Fetal Stomach	stomach
37	chr7:70061800-70062600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr7:70061800-70062600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:70061800-70062800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:70061800-70063400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:70061800-70063800	Flanking Active TSS	NHEK	skin
42	chr7:70061800-70064200	Weak transcription	Gastric	stomach
43	chr7:70061800-70064400	Weak transcription	Colonic Mucosa	Colon
44	chr7:70061800-70069200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:70061800-70079400	Weak transcription	Psoas Muscle	Psoas

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