Variant report

Variant	rs2329455
Chromosome Location	chr7:39607705-39607706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39604710..39608797-chr7:39663149..39665225,4	K562	blood:
2	chr7:39605618..39607861-chr7:39772706..39774759,2	K562	blood:
3	chr7:39605969..39608430-chr7:39663149..39665540,3	K562	blood:
4	chr7:39606078..39608053-chr7:39609216..39613025,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188185	Chromatin interaction
ENSG00000241127	Chromatin interaction
ENSG00000236015	Chromatin interaction
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10245247	0.80[ASN][1000 genomes]
rs10258946	0.84[ASN][1000 genomes]
rs10266149	0.84[ASN][1000 genomes]
rs10486798	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12111908	0.84[ASN][1000 genomes]
rs17171603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17620556	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs17687994	0.94[EUR][1000 genomes]
rs17713754	0.92[ASN][1000 genomes]
rs17713951	0.96[ASN][1000 genomes]
rs17714049	0.84[ASN][1000 genomes]
rs17770594	1.00[ASN][1000 genomes]
rs17770612	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17770625	1.00[ASN][1000 genomes]
rs1989533	0.82[ASN][1000 genomes]
rs2329461	0.84[ASN][1000 genomes]
rs2329462	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2329463	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4723881	0.84[ASN][1000 genomes]
rs4723882	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723883	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723884	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723885	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs58299139	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59071947	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61493712	0.84[ASN][1000 genomes]
rs6948276	0.82[YRI][hapmap]
rs6968742	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6980317	0.83[YRI][hapmap]
rs73375695	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777434	0.82[YRI][hapmap]
rs7785964	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796063	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs9768664	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv970467	chr7:39605971-39615006	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39606400-39614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:39606600-39609000	Weak transcription	Esophagus	oesophagus
3	chr7:39606600-39616200	Weak transcription	Spleen	Spleen
4	chr7:39606600-39616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:39606600-39616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:39606600-39618600	Weak transcription	Gastric	stomach
7	chr7:39606600-39619800	Weak transcription	Lung	lung
8	chr7:39607000-39609200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:39607000-39609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:39607000-39609200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:39607000-39609800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:39607000-39611400	Weak transcription	Left Ventricle	heart
13	chr7:39607000-39616800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:39607000-39618800	Weak transcription	Right Ventricle	heart
15	chr7:39607000-39619800	Weak transcription	Ovary	ovary
16	chr7:39607000-39623800	Weak transcription	Pancreas	Pancrea
17	chr7:39607000-39631400	Weak transcription	Aorta	Aorta
18	chr7:39607200-39607800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:39607200-39607800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:39607200-39607800	Enhancers	Brain Germinal Matrix	brain
21	chr7:39607200-39607800	Enhancers	NHEK	skin
22	chr7:39607200-39609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:39607200-39609000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:39607200-39609000	Weak transcription	Fetal Intestine Large	intestine
25	chr7:39607200-39609000	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:39607200-39609200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:39607200-39609200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:39607200-39609200	Weak transcription	Primary B cells from cord blood	blood
29	chr7:39607200-39609200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:39607200-39609200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:39607200-39609200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:39607200-39609200	Weak transcription	HSMM	muscle
33	chr7:39607200-39609400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:39607200-39609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:39607200-39609400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:39607200-39609400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:39607200-39609400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:39607200-39609400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:39607200-39609400	Weak transcription	Placenta	Placenta
40	chr7:39607200-39609800	Weak transcription	Brain Anterior Caudate	brain
41	chr7:39607200-39610000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:39607200-39610000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:39607200-39610000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:39607200-39610200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:39607200-39610200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:39607200-39610200	Weak transcription	Fetal Thymus	thymus
47	chr7:39607200-39610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:39607200-39610200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:39607200-39611000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:39607200-39611200	Weak transcription	Liver	Liver

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