Variant report

Variant	rs254927
Chromosome Location	chr7:70048785-70048786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70041903..70043590-chr7:70046514..70049488,2	K562	blood:
2	chr7:70035377..70037187-chr7:70048714..70051712,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs38320	0.97[ASN][1000 genomes]
rs38321	0.98[ASN][1000 genomes]
rs38322	0.98[ASN][1000 genomes]
rs38326	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70036800-70060800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:70037800-70049200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:70038600-70059600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:70039800-70060600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:70044600-70050400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:70045200-70051600	Weak transcription	HSMMtube	muscle
7	chr7:70045400-70049400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:70045400-70049600	Weak transcription	Pancreas	Pancrea
9	chr7:70045400-70051400	Weak transcription	HSMM	muscle
10	chr7:70045400-70060800	Weak transcription	Gastric	stomach
11	chr7:70046400-70050800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:70046600-70049800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:70046600-70050400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:70046600-70050800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:70047000-70050800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:70047000-70053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:70047200-70050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:70047200-70050200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:70047200-70050600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:70047200-70050600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:70047200-70050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:70047200-70050800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:70047200-70050800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:70047400-70049400	Enhancers	Fetal Heart	heart
25	chr7:70047400-70050000	Enhancers	Fetal Muscle Leg	muscle
26	chr7:70047400-70050400	Enhancers	Fetal Stomach	stomach
27	chr7:70047400-70050600	Enhancers	Fetal Intestine Small	intestine
28	chr7:70047600-70050000	Enhancers	Fetal Kidney	kidney
29	chr7:70047600-70050400	Enhancers	Fetal Lung	lung
30	chr7:70047800-70049000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:70047800-70049000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:70047800-70050000	Enhancers	Brain Germinal Matrix	brain
33	chr7:70047800-70053800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:70048000-70049000	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:70048000-70050400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:70048200-70049000	Enhancers	Fetal Brain Male	brain
37	chr7:70048200-70049600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:70048200-70050000	Enhancers	Stomach Mucosa	stomach
39	chr7:70048200-70050200	Enhancers	Fetal Intestine Large	intestine
40	chr7:70048400-70048800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr7:70048400-70048800	Enhancers	Brain Substantia Nigra	brain
42	chr7:70048400-70048800	Enhancers	Placenta	Placenta
43	chr7:70048400-70049000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr7:70048400-70049000	Enhancers	Psoas Muscle	Psoas
45	chr7:70048400-70049000	Enhancers	Small Intestine	intestine
46	chr7:70048400-70049400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:70048400-70049800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:70048400-70050000	Enhancers	NHEK	skin
49	chr7:70048400-70050200	Enhancers	Fetal Brain Female	brain
50	chr7:70048400-70050400	Enhancers	Rectal Mucosa Donor 31	rectum

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