Variant report

Variant	rs189430029
Chromosome Location	chr1:46813760-46813761
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46768570..46769429-chr1:46813403..46814072,2	K562	blood:
2	chr1:46798939..46799467-chr1:46813581..46814481,2	MCF-7	breast:
3	chr1:46798881..46799993-chr1:46813488..46814394,6	K562	blood:
4	chr1:46767434..46768285-chr1:46813200..46814407,4	MCF-7	breast:
5	chr1:46763061..46775715-chr1:46803221..46815018,50	K562	blood:
6	chr1:46763061..46775205-chr1:46803159..46817121,53	K562	blood:
7	chr1:46804821..46808263-chr1:46810401..46814880,8	MCF-7	breast:
8	chr1:46811114..46815491-chr1:46820924..46824647,4	K562	blood:
9	chr1:46813651..46815431-chr1:46818559..46820189,2	K562	blood:
10	chr1:46769797..46770393-chr1:46813486..46814439,2	K562	blood:
11	chr1:46646028..46646908-chr1:46813526..46814026,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173660	Chromatin interaction
ENSG00000117481	Chromatin interaction
ENSG00000132128	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv159955	chr1:46813543-46820327	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 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	chr1:46807000-46827200	Weak transcription	Fetal Brain Male	brain
2	chr1:46807200-46818400	Weak transcription	Small Intestine	intestine
3	chr1:46807200-46827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:46807400-46815200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:46807400-46820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:46807400-46831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:46807400-46832200	Strong transcription	Fetal Stomach	stomach
8	chr1:46807600-46815200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:46807600-46815200	Weak transcription	Psoas Muscle	Psoas
10	chr1:46807600-46835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:46807600-46844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:46807800-46813800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:46807800-46815400	Weak transcription	Stomach Mucosa	stomach
14	chr1:46807800-46816000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:46807800-46816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:46807800-46823200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:46807800-46824600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:46807800-46835000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:46808000-46814400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:46808000-46814400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:46808200-46816800	Strong transcription	NHEK	skin
22	chr1:46808200-46821600	Weak transcription	Right Atrium	heart
23	chr1:46808400-46816800	Strong transcription	Primary T cells from cord blood	blood
24	chr1:46808400-46816800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:46808400-46817000	Strong transcription	Lung	lung
26	chr1:46808600-46822200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:46808600-46831800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:46808600-46834600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:46808800-46814000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:46808800-46814400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:46808800-46814400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:46808800-46816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:46808800-46817000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:46808800-46823400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:46808800-46825200	Strong transcription	Placenta	Placenta
36	chr1:46809000-46816800	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr1:46809000-46817200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:46809200-46814200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:46809200-46817000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:46809200-46831600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:46809200-46848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:46809400-46813800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:46809400-46816600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:46809400-46816800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:46809400-46823800	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:46809600-46816600	Strong transcription	Osteobl	bone
47	chr1:46809600-46816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:46809600-46823200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:46809800-46814200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:46810000-46813800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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