Variant report

Variant	rs547930247
Chromosome Location	chr5:75864830-75864831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75858031..75860083-chr5:75863526..75866442,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv598681	chr5:75863987-75902533	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:75845400-75876600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:75852800-75877800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:75852800-75877800	Weak transcription	Small Intestine	intestine
8	chr5:75853200-75896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:75856400-75873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:75857400-75866200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:75858800-75866000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:75858800-75876600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:75859000-75866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:75859000-75866200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:75859000-75873200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:75859000-75878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:75860800-75872000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:75861200-75872200	Weak transcription	Fetal Lung	lung
19	chr5:75861200-75889600	Weak transcription	Fetal Stomach	stomach
20	chr5:75861400-75878600	Weak transcription	Pancreas	Pancrea
21	chr5:75861600-75866000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:75861600-75866200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:75862000-75866400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:75862200-75885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:75862400-75865600	Weak transcription	Placenta	Placenta
26	chr5:75862400-75867600	Weak transcription	Fetal Brain Male	brain
27	chr5:75862600-75866200	Weak transcription	Liver	Liver
28	chr5:75862600-75873600	Weak transcription	HepG2	liver
29	chr5:75862600-75877800	Weak transcription	K562	blood
30	chr5:75862800-75880200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:75863000-75866200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:75863000-75866200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:75863200-75866000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:75863400-75866400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:75863400-75872800	Weak transcription	Gastric	stomach
36	chr5:75863600-75866000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:75863800-75866000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:75863800-75866200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:75864000-75866000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:75864000-75867000	Weak transcription	Primary B cells from cord blood	blood
41	chr5:75864600-75866400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:75864600-75867000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:75864600-75867400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:75864600-75876200	Weak transcription	Stomach Mucosa	stomach
45	chr5:75864600-75876600	Weak transcription	Fetal Intestine Small	intestine
46	chr5:75864600-75878200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:75864800-75866000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:75864800-75878200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links