Variant report

Variant	rs184614488
Chromosome Location	chr1:76209402-76209403
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:76209069-76210252	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:76208245-76209496	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:76208010-76211534	K562	blood:	n/a	n/a
4	POLR2A	chr1:76208097-76209453	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:76209201-76209477	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:76209189-76209480	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76208288..76210222-chr1:76210745..76212663,2	K562	blood:
2	chr1:76208509..76211228-chr1:76250454..76252141,2	K562	blood:
3	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
4	chr1:76205678..76212783-chr1:76212896..76217702,9	K562	blood:
5	chr1:76197560..76200556-chr1:76208948..76211290,2	K562	blood:
6	chr1:76208992..76212319-chr1:76261590..76264096,3	K562	blood:

No data

Variant related genes	Relation type
ACADM	TF binding region
ENSG00000117054	Chromatin interaction
ENSG00000057468	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000137955	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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv946000	chr1:76208402-76210101	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76191200-76219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:76192000-76210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:76192000-76220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76192000-76220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:76192200-76217800	Weak transcription	Fetal Brain Male	brain
7	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:76193600-76220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:76193800-76220200	Weak transcription	Fetal Heart	heart
10	chr1:76195600-76219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:76195800-76213800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:76196000-76210800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:76196000-76222000	Strong transcription	Liver	Liver
14	chr1:76196200-76212600	Strong transcription	Fetal Thymus	thymus
15	chr1:76196400-76210800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:76196400-76213000	Strong transcription	Dnd41	blood
17	chr1:76197600-76209600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:76197600-76211400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:76197600-76212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:76197600-76219400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:76197800-76210600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:76198000-76210400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:76198200-76209800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:76198200-76210400	Strong transcription	Adipose Nuclei	Adipose
25	chr1:76198200-76210600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:76198400-76210400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:76198600-76210200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:76198600-76210400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:76198600-76211600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:76198600-76212000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:76198800-76210600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:76198800-76210800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:76199000-76210200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:76199600-76218600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:76199600-76220400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:76201600-76217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
38	chr1:76202600-76210400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
40	chr1:76203800-76211200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:76204200-76209600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:76204200-76210600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:76204200-76212000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:76204200-76212000	Strong transcription	K562	blood
45	chr1:76204400-76210400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:76204400-76210400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:76204400-76210400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:76204400-76212000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:76204600-76209800	Strong transcription	GM12878-XiMat	blood
50	chr1:76204600-76210200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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