Variant report

Variant	rs6747601
Chromosome Location	chr2:99840270-99840271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11123769	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12993310	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1487271	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1487272	0.86[AFR][1000 genomes]
rs1565054	0.85[EUR][1000 genomes]
rs1843807	0.87[EUR][1000 genomes]
rs35996174	0.84[AFR][1000 genomes]
rs4851189	0.81[EUR][1000 genomes]
rs4851191	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4851194	0.87[EUR][1000 genomes]
rs6542871	0.81[EUR][1000 genomes]
rs7579999	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7586635	0.84[AFR][1000 genomes]
rs7602401	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv515702	chr2:99827733-99922967	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv458685	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv582519	chr2:99827733-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874698	chr2:99827733-99924918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv1001784	chr2:99838079-99910328	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv535840	chr2:99838079-99910328	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv458696	chr2:99838203-99922967	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv582520	chr2:99838203-99922967	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv997436	chr2:99840131-99916886	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv1009872	chr2:99840131-99924543	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv1001194	chr2:99840131-99928323	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv2762746	chr2:99840143-99916898	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99814400-99842200	Weak transcription	Ovary	ovary
2	chr2:99814400-99842800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:99814800-99840600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:99815000-99840600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:99815000-99840800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:99815000-99841800	Weak transcription	Pancreas	Pancrea
7	chr2:99815000-99842400	Weak transcription	Fetal Lung	lung
8	chr2:99815200-99840600	Weak transcription	Aorta	Aorta
9	chr2:99815200-99841800	Weak transcription	Spleen	Spleen
10	chr2:99815200-99842000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:99815200-99842400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:99815600-99842000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:99815600-99842200	Weak transcription	Fetal Stomach	stomach
14	chr2:99815600-99843400	Weak transcription	Fetal Brain Female	brain
15	chr2:99818200-99854600	Weak transcription	Left Ventricle	heart
16	chr2:99818600-99842200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:99818800-99843600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:99819000-99843200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:99825200-99843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:99825400-99841800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:99827600-99842800	Weak transcription	Fetal Brain Male	brain
22	chr2:99829600-99844400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:99832600-99842800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:99833200-99841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:99833200-99842600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:99833400-99843400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:99834800-99842400	Weak transcription	Brain Anterior Caudate	brain
28	chr2:99836000-99842600	Weak transcription	Psoas Muscle	Psoas
29	chr2:99836200-99847600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:99838600-99840600	Weak transcription	Liver	Liver
31	chr2:99839600-99842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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