Variant report

Variant	rs17036004
Chromosome Location	chr2:47205483-47205484
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	chr2:47205050-47206255	GM12892	blood:	n/a	n/a
2	RUNX3	chr2:47205009-47205518	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:47205046-47205531	Raji	blood:	n/a	n/a
4	SPI1	chr2:47204761-47205515	GM12878	blood:	n/a	chr2:47205142-47205151
5	MTA3	chr2:47204926-47205585	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47167291..47170086-chr2:47204793..47207048,4	MCF-7	breast:
2	chr2:47205093..47209059-chr2:47402217..47405792,6	K562	blood:

Variant related genes	Relation type
TTC7A	TF binding region
ENSG00000180398	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11893750	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12998344	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13004682	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13011673	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13025013	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1865260	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34800049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs993848	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs993849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
12	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:47195600-47210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:47195600-47212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:47196000-47205800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:47196400-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:47196600-47227800	Strong transcription	Dnd41	blood
19	chr2:47197600-47206000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:47198000-47209800	Weak transcription	Right Atrium	heart
21	chr2:47198200-47205800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:47198200-47206800	Weak transcription	Right Ventricle	heart
23	chr2:47198400-47208000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:47199200-47208600	Weak transcription	Small Intestine	intestine
25	chr2:47199400-47208400	Weak transcription	HUVEC	blood vessel
26	chr2:47199600-47209600	Strong transcription	Osteobl	bone
27	chr2:47199800-47208400	Strong transcription	Fetal Intestine Small	intestine
28	chr2:47199800-47209600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:47200000-47207800	Strong transcription	HepG2	liver
30	chr2:47200000-47207800	Weak transcription	K562	blood
31	chr2:47200200-47208000	Weak transcription	Stomach Mucosa	stomach
32	chr2:47200200-47210000	Weak transcription	Hela-S3	cervix
33	chr2:47200400-47208800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:47200800-47216400	Genic enhancers	Fetal Thymus	thymus
35	chr2:47201400-47209400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:47201600-47206200	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:47201600-47208600	Strong transcription	A549	lung
38	chr2:47201600-47210200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:47201600-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:47201600-47213200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:47201800-47205800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:47201800-47206000	Strong transcription	Fetal Stomach	stomach
43	chr2:47201800-47208200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:47201800-47208200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:47201800-47208400	Strong transcription	Fetal Intestine Large	intestine
46	chr2:47201800-47211600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:47202000-47206000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:47202000-47206800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:47202000-47208400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:47202000-47208400	Weak transcription	Ovary	ovary

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