Variant report

Variant	rs17012647
Chromosome Location	chr2:33415249-33415250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33387130..33389156-chr2:33413071..33415726,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12104905	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105049	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105569	1.00[AMR][1000 genomes]
rs1454377	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012599	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012645	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012677	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17038528	1.00[AMR][1000 genomes]
rs55676641	1.00[AMR][1000 genomes]
rs56191261	1.00[AMR][1000 genomes]
rs57040194	1.00[AMR][1000 genomes]
rs58248415	1.00[AMR][1000 genomes]
rs58447746	1.00[AMR][1000 genomes]
rs59291317	1.00[AMR][1000 genomes]
rs61050968	1.00[AMR][1000 genomes]
rs61154196	1.00[AMR][1000 genomes]
rs61163843	1.00[AMR][1000 genomes]
rs6706960	1.00[AMR][1000 genomes]
rs6707278	1.00[AMR][1000 genomes]
rs6710588	1.00[AMR][1000 genomes]
rs6719885	1.00[AMR][1000 genomes]
rs6724967	1.00[AMR][1000 genomes]
rs6736870	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739497	1.00[AMR][1000 genomes]
rs6741450	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6752263	1.00[AMR][1000 genomes]
rs73924181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924197	1.00[AMR][1000 genomes]
rs73925003	1.00[AMR][1000 genomes]
rs73925009	1.00[AMR][1000 genomes]
rs73925011	1.00[AMR][1000 genomes]
rs73925681	1.00[AMR][1000 genomes]
rs73925695	1.00[AMR][1000 genomes]
rs73925697	1.00[AMR][1000 genomes]
rs73925698	1.00[AMR][1000 genomes]
rs73925700	1.00[AMR][1000 genomes]
rs73927363	1.00[AMR][1000 genomes]
rs7594149	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs957131	1.00[YRI][hapmap];1.00[AMR][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33406400-33419400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:33408000-33422400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:33408200-33423000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:33408400-33415400	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr2:33409000-33417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
10	chr2:33409600-33415400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:33410400-33415600	Weak transcription	Fetal Intestine Large	intestine
12	chr2:33410400-33423800	Weak transcription	Placenta	Placenta
13	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:33410600-33415600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:33410600-33415600	Weak transcription	HSMMtube	muscle
16	chr2:33411200-33416000	Strong transcription	NHLF	lung
17	chr2:33411600-33421200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:33411800-33416400	Strong transcription	Osteobl	bone
19	chr2:33412000-33418200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:33412200-33420600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:33412400-33415800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:33412400-33419200	Weak transcription	Esophagus	oesophagus
23	chr2:33412400-33421400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:33412800-33419200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:33413000-33417600	Strong transcription	NH-A	brain
26	chr2:33413200-33415600	Weak transcription	Fetal Intestine Small	intestine
27	chr2:33413200-33415800	Strong transcription	Aorta	Aorta
28	chr2:33413600-33415400	Strong transcription	Fetal Muscle Leg	muscle
29	chr2:33413600-33415600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:33413600-33415800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:33413600-33415800	Strong transcription	Ovary	ovary
32	chr2:33413600-33416000	Strong transcription	Liver	Liver
33	chr2:33414000-33427800	Weak transcription	Right Ventricle	heart
34	chr2:33414000-33434200	Weak transcription	HUVEC	blood vessel
35	chr2:33414200-33416600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:33414200-33422400	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:33414600-33417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:33414600-33422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
40	chr2:33414800-33417000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:33414800-33417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:33415000-33415600	Strong transcription	NHDF-Ad	bronchial
43	chr2:33415000-33416400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:33415000-33434400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:33415200-33415600	Enhancers	K562	blood
46	chr2:33415200-33416000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:33415200-33417000	Enhancers	Fetal Heart	heart
48	chr2:33415200-33417400	Enhancers	Fetal Lung	lung
49	chr2:33415200-33427600	Weak transcription	Left Ventricle	heart
50	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle

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