Variant report

Variant	rs6805994
Chromosome Location	chr3:196083992-196083993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196082786..196084375-chr3:196104445..196107093,2	K562	blood:
2	chr3:196070078..196071619-chr3:196082742..196085208,2	MCF-7	breast:
3	chr3:196065505..196067615-chr3:196082041..196085251,3	K562	blood:
4	chr3:196078088..196079673-chr3:196083665..196086587,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11712853	0.90[EUR][1000 genomes]
rs34702811	0.89[EUR][1000 genomes]
rs4371545	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4513483	0.90[EUR][1000 genomes]
rs4916428	0.90[EUR][1000 genomes]
rs6774540	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs7373049	0.86[CEU][hapmap]
rs7373103	0.85[CEU][hapmap]
rs7617626	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7639524	1.00[JPT][hapmap]
rs9841810	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9847223	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9848247	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs9860931	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:196074200-196099000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:196074800-196087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:196074800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:196076600-196085800	Weak transcription	A549	lung
11	chr3:196077000-196100400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:196077200-196087600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:196077600-196089800	Strong transcription	Osteobl	bone
14	chr3:196077800-196085800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:196077800-196093200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:196077800-196095200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr3:196078600-196089800	Strong transcription	Primary T cells from cord blood	blood
18	chr3:196078800-196090000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr3:196078800-196095000	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:196079200-196089600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:196079600-196084000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr3:196079600-196090800	Strong transcription	Fetal Intestine Large	intestine
23	chr3:196079800-196087000	Weak transcription	Pancreas	Pancrea
24	chr3:196079800-196089800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:196079800-196089800	Strong transcription	Adipose Nuclei	Adipose
26	chr3:196079800-196089800	Strong transcription	Liver	Liver
27	chr3:196079800-196091400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:196079800-196096800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:196079800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:196080000-196084200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr3:196080000-196084200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:196080000-196086200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:196080000-196089800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:196080000-196090400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:196080000-196090600	Strong transcription	Placenta	Placenta
36	chr3:196080000-196090600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr3:196080000-196091400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:196080000-196093400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:196080200-196089800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:196080200-196090600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr3:196080400-196090600	Strong transcription	Fetal Thymus	thymus
42	chr3:196080600-196085400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:196080600-196089800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:196080600-196090000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:196080600-196090800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:196080600-196095000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:196080600-196100800	Strong transcription	Dnd41	blood
48	chr3:196080800-196084000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:196080800-196084400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:196080800-196084400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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