Variant report

Variant	rs138897333
Chromosome Location	chr1:171753403-171753404
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	chr1:171753064-171753637	K562	blood:	n/a	n/a
2	POLR2A	chr1:171753143-171753669	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
2	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
3	chr1:171752566..171754106-chr1:171760621..171762669,2	MCF-7	breast:

Variant related genes	Relation type
METTL13	TF binding region
ENSG00000117533	Chromatin interaction
ENSG00000010165	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv522889	chr1:171749665-171755071	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518222	chr1:171753039-171763549	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171751400-171754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:171751400-171755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:171751600-171754800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:171751600-171770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:171751800-171754200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:171752000-171754600	Weak transcription	HSMMtube	muscle
7	chr1:171752000-171754800	Weak transcription	Small Intestine	intestine
8	chr1:171752000-171755000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:171752000-171773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:171752200-171753600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:171752200-171753600	Weak transcription	Fetal Brain Male	brain
12	chr1:171752200-171753800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:171752200-171753800	Weak transcription	NH-A	brain
14	chr1:171752200-171753800	Weak transcription	NHDF-Ad	bronchial
15	chr1:171752200-171755000	Weak transcription	Osteobl	bone
16	chr1:171752200-171759200	Weak transcription	Fetal Heart	heart
17	chr1:171752200-171762200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:171752200-171766600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:171752200-171767400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:171752200-171768200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:171752400-171753800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:171752400-171753800	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:171752400-171754000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:171752400-171754000	Genic enhancers	HMEC	breast
25	chr1:171752400-171754200	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr1:171752400-171754400	Weak transcription	Fetal Kidney	kidney
27	chr1:171752400-171754800	Genic enhancers	Duodenum Mucosa	Duodenum
28	chr1:171752400-171754800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:171752400-171754800	Weak transcription	HUVEC	blood vessel
30	chr1:171752400-171755400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:171752400-171755400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:171752400-171755400	Genic enhancers	K562	blood
33	chr1:171752400-171755600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:171752400-171766600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:171752400-171767200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:171752600-171753800	Strong transcription	Brain Anterior Caudate	brain
37	chr1:171752600-171754000	Strong transcription	Fetal Thymus	thymus
38	chr1:171752600-171754200	Genic enhancers	Primary T cells from cord blood	blood
39	chr1:171752600-171754200	Genic enhancers	Brain Angular Gyrus	brain
40	chr1:171752600-171754600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr1:171752600-171754600	Genic enhancers	Liver	Liver
42	chr1:171752600-171754600	Strong transcription	HSMM	muscle
43	chr1:171752600-171755000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:171752600-171755200	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr1:171752600-171755600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:171752600-171756400	Strong transcription	NHEK	skin
47	chr1:171752600-171760000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:171752600-171767000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:171752600-171767000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:171752600-171767400	Strong transcription	Primary B cells from cord blood	blood

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