Variant report

Variant	rs542050975
Chromosome Location	chr1:71517265-71517266
allele	G/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	chr1:71515710-71520875	MCF10A-Er-Src	breast:	n/a	n/a
2	PBX3	chr1:71517208-71517302	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:71517006-71517298	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:71513866-71520382	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71516613..71518647-chr1:71521237..71523462,2	K562	blood:

Variant related genes	Relation type
PTGER3	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
2	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv945995	chr1:71517111-71520224	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71513600-71533600	Weak transcription	Lung	lung
2	chr1:71514000-71525000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:71514000-71527400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:71514000-71530600	Weak transcription	Ovary	ovary
5	chr1:71514000-71533600	Weak transcription	Pancreas	Pancrea
6	chr1:71514000-71533600	Weak transcription	Right Ventricle	heart
7	chr1:71514200-71518000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:71514200-71518800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:71514200-71524200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:71514200-71533600	Weak transcription	Spleen	Spleen
11	chr1:71514400-71524400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:71515800-71521400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:71515800-71522400	Weak transcription	Liver	Liver
14	chr1:71515800-71522800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:71515800-71523200	Weak transcription	Dnd41	blood
16	chr1:71515800-71524600	Weak transcription	Fetal Brain Female	brain
17	chr1:71515800-71524800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:71515800-71525000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:71515800-71525200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:71515800-71526000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:71515800-71541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:71516000-71520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:71516000-71524400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:71516800-71522000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:71517000-71522000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:71517000-71522200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:71517000-71522800	Weak transcription	Fetal Thymus	thymus
28	chr1:71517000-71526000	Weak transcription	Thymus	Thymus
29	chr1:71517200-71522600	Weak transcription	Primary T cells from cord blood	blood
30	chr1:71517200-71523200	Weak transcription	K562	blood

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