Variant report

Variant	rs3811433
Chromosome Location	chr1:46029927-46029928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46029830-46030026	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:46029926-46029965	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46029652..46033129-chr1:46033927..46038189,5	K562	blood:
2	chr1:46014232..46017206-chr1:46025290..46030299,5	K562	blood:
3	chr1:46016398..46018612-chr1:46028502..46030391,2	MCF-7	breast:
4	chr1:46027383..46031595-chr1:46048142..46051631,6	K562	blood:
5	chr1:46029805..46031655-chr1:46034563..46036414,2	MCF-7	breast:
6	chr1:46015633..46018049-chr1:46028799..46031573,2	K562	blood:
7	chr1:46026984..46033199-chr1:46047562..46051151,12	K562	blood:

No data

Variant related genes	Relation type
AKR1A1	TF binding region
ENSG00000117448	Chromatin interaction
ENSG00000132780	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2275084	1.00[EUR][1000 genomes]
rs2297652	1.00[EUR][1000 genomes]
rs28365868	1.00[EUR][1000 genomes]
rs28365913	1.00[EUR][1000 genomes]
rs3748645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811434	1.00[EUR][1000 genomes]
rs41269109	1.00[EUR][1000 genomes]
rs41269111	1.00[EUR][1000 genomes]
rs41269115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272133	1.00[EUR][1000 genomes]
rs41312018	1.00[EUR][1000 genomes]
rs56215132	1.00[EUR][1000 genomes]
rs56220330	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
7	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 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	chr1:46017800-46032200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:46017800-46038800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:46018000-46032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:46018000-46038600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:46018200-46037400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:46018400-46032000	Weak transcription	Fetal Kidney	kidney
7	chr1:46018400-46032600	Weak transcription	Fetal Brain Male	brain
8	chr1:46018400-46036400	Strong transcription	Fetal Stomach	stomach
9	chr1:46018400-46036800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:46018400-46036800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:46018400-46036800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:46018400-46037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:46018600-46032000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:46018600-46034200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:46018600-46036800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr1:46018600-46037600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:46018600-46038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:46019200-46032000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:46020600-46032200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:46022000-46032200	Weak transcription	NHLF	lung
21	chr1:46022800-46030400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:46022800-46036800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:46023000-46030200	Strong transcription	Primary T cells from cord blood	blood
24	chr1:46023000-46036600	Strong transcription	Dnd41	blood
25	chr1:46023400-46030600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:46023400-46032000	Weak transcription	Pancreas	Pancrea
27	chr1:46023400-46032200	Weak transcription	Right Atrium	heart
28	chr1:46023400-46032600	Weak transcription	Small Intestine	intestine
29	chr1:46023400-46037200	Weak transcription	Psoas Muscle	Psoas
30	chr1:46023600-46032000	Weak transcription	Fetal Heart	heart
31	chr1:46023600-46032200	Weak transcription	HMEC	breast
32	chr1:46023600-46032400	Weak transcription	Stomach Mucosa	stomach
33	chr1:46023800-46032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:46024400-46030400	Strong transcription	Fetal Brain Female	brain
35	chr1:46024400-46030600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:46024400-46030600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:46024400-46037200	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:46024600-46036800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:46024800-46030400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:46025200-46032200	Weak transcription	Hela-S3	cervix
41	chr1:46025400-46030200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:46025400-46030200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:46025600-46030400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:46025600-46030400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:46025800-46030200	Strong transcription	Placenta	Placenta
46	chr1:46025800-46030200	Strong transcription	Spleen	Spleen
47	chr1:46025800-46030600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:46025800-46032200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:46025800-46035800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:46025800-46036600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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