Variant report

Variant	rs2698107
Chromosome Location	chr6:131475653-131475654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12194130	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1569196	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs2698108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591867	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497082	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs623815	0.98[ASN][1000 genomes]
rs6917207	0.82[CHB][hapmap]
rs6942184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7752162	0.87[AFR][1000 genomes]
rs9483226	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr6:131457200-131493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:131457200-131504400	Weak transcription	Spleen	Spleen
3	chr6:131457600-131505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
5	chr6:131457800-131476000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:131457800-131480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:131457800-131481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:131457800-131486800	Weak transcription	Primary B cells from cord blood	blood
9	chr6:131457800-131487800	Weak transcription	Psoas Muscle	Psoas
10	chr6:131457800-131504200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr6:131457800-131504200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:131458000-131485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:131458000-131487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:131458000-131498800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:131458000-131505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:131458000-131505800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:131458200-131480600	Weak transcription	NHDF-Ad	bronchial
18	chr6:131458200-131486600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:131458200-131505200	Weak transcription	Fetal Lung	lung
20	chr6:131458200-131513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:131458400-131484800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:131458400-131485000	Weak transcription	Brain Angular Gyrus	brain
23	chr6:131458400-131498000	Weak transcription	Aorta	Aorta
24	chr6:131458400-131504200	Weak transcription	Dnd41	blood
25	chr6:131461200-131494600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:131461400-131485400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:131463600-131484800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:131464000-131484600	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:131464000-131499200	Weak transcription	Fetal Stomach	stomach
30	chr6:131464200-131486600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:131464400-131481600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:131464600-131485000	Weak transcription	Brain Anterior Caudate	brain
33	chr6:131464800-131499200	Weak transcription	Esophagus	oesophagus
34	chr6:131467000-131485000	Weak transcription	Fetal Intestine Small	intestine
35	chr6:131467800-131486600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:131468000-131486400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:131468200-131480600	Weak transcription	HSMM	muscle
38	chr6:131468200-131480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:131468200-131483000	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:131468200-131483400	Weak transcription	Left Ventricle	heart
41	chr6:131468200-131499800	Weak transcription	Lung	lung
42	chr6:131468400-131480800	Weak transcription	Ovary	ovary
43	chr6:131468600-131481400	Weak transcription	Adipose Nuclei	Adipose
44	chr6:131469000-131486800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:131469200-131480600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:131469200-131481600	Weak transcription	Liver	Liver
47	chr6:131469200-131504200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:131469400-131485000	Weak transcription	Brain Substantia Nigra	brain
49	chr6:131471000-131479600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:131471200-131483800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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