Variant report

Variant	rs4414676
Chromosome Location	chr2:152348185-152348186
allele	C/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	chr2:152347641-152348405	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152345538..152348326-chr2:152350633..152352626,2	MCF-7	breast:
2	chr2:152347893..152350567-chr2:152361417..152364168,2	K562	blood:

Variant related genes	Relation type
RIF1	TF binding region
ENSG00000183091	Chromatin interaction
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11685727	0.96[YRI][hapmap]
rs16823297	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16830140	0.80[YRI][hapmap]
rs2444258	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2444265	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2444268	0.83[AFR][1000 genomes]
rs2444273	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73005906	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73005907	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73005917	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7585604	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv933869	chr2:152308156-152391576	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv437298	chr2:152320118-152356361	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152295800-152348400	Weak transcription	Right Ventricle	heart
3	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
4	chr2:152314000-152349400	Weak transcription	Pancreas	Pancrea
5	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:152324000-152348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
8	chr2:152325600-152348800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:152332000-152350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:152332400-152350800	Weak transcription	NHDF-Ad	bronchial
12	chr2:152334000-152349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:152335200-152349400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:152336800-152355000	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:152337400-152348800	Weak transcription	Hela-S3	cervix
16	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
17	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:152338400-152349000	Weak transcription	HUVEC	blood vessel
19	chr2:152338600-152348800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:152339400-152348200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:152339400-152348600	Weak transcription	Ovary	ovary
23	chr2:152339400-152350800	Weak transcription	A549	lung
24	chr2:152339600-152354400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:152339800-152350400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:152340400-152348400	Weak transcription	NHLF	lung
27	chr2:152340400-152349800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:152340400-152350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:152340600-152364600	Weak transcription	HepG2	liver
31	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:152341400-152348400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:152341400-152350200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:152341600-152348600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:152341600-152353400	Weak transcription	NHEK	skin
36	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
37	chr2:152341800-152350000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:152341800-152350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:152341800-152350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:152341800-152364400	Weak transcription	Fetal Intestine Small	intestine
41	chr2:152342200-152355000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:152342400-152353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:152342600-152348200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:152342600-152348400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:152342600-152349800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:152342600-152350200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:152342600-152352600	Weak transcription	Lung	lung
48	chr2:152342800-152349800	Weak transcription	Osteobl	bone
49	chr2:152342800-152350600	Weak transcription	Fetal Thymus	thymus
50	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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