Variant report

Variant	rs6781005
Chromosome Location	chr3:194917749-194917750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194916402..194919849-chr3:194924223..194926668,3	MCF-7	breast:
2	chr3:194836469..194838114-chr3:194916214..194918865,2	MCF-7	breast:
3	chr3:194906815..194911611-chr3:194916675..194920611,6	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2410807	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56668696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57248461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57365391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57803498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58385190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447820	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59334385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59410531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59614349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60222943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60263361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60356340	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61317745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61333086	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6777848	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778619	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781962	0.86[ASW][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs6782078	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788143	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788257	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6788492	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6796828	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs736919	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs736920	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs73890716	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890727	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890730	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890734	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active 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	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
20	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194907600-194918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:194909600-194921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:194910600-194919200	Weak transcription	Fetal Lung	lung
4	chr3:194915000-194917800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:194915000-194917800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:194915000-194917800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:194915000-194918000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:194915000-194918000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:194915000-194918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:194915000-194920000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:194915200-194917800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:194915200-194917800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:194915200-194918400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:194915200-194919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:194915200-194919600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:194915200-194922600	Enhancers	HepG2	liver
17	chr3:194915400-194918400	Enhancers	HSMM	muscle
18	chr3:194915400-194919600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:194915400-194919800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:194915600-194917800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:194915600-194918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:194915600-194918600	Weak transcription	Small Intestine	intestine
23	chr3:194915800-194918400	Enhancers	Osteobl	bone
24	chr3:194915800-194919600	Enhancers	NH-A	brain
25	chr3:194915800-194920000	Enhancers	HUVEC	blood vessel
26	chr3:194915800-194920400	Weak transcription	Primary T cells from cord blood	blood
27	chr3:194916000-194917800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:194916200-194919000	Weak transcription	Stomach Mucosa	stomach
29	chr3:194916200-194921400	Enhancers	K562	blood
30	chr3:194916400-194917800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:194916400-194917800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:194916400-194917800	Enhancers	Colon Smooth Muscle	Colon
33	chr3:194916400-194918400	Weak transcription	GM12878-XiMat	blood
34	chr3:194916400-194919800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:194916600-194917800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:194916600-194918600	Enhancers	NHEK	skin
37	chr3:194916600-194919000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:194916600-194919000	Enhancers	Hela-S3	cervix
39	chr3:194916600-194919400	Enhancers	NHLF	lung
40	chr3:194916600-194919600	Enhancers	HMEC	breast
41	chr3:194916600-194929000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:194916800-194917800	Enhancers	Brain Cingulate Gyrus	brain
43	chr3:194916800-194918400	Weak transcription	Lung	lung
44	chr3:194916800-194918600	Enhancers	Fetal Heart	heart
45	chr3:194916800-194919600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:194916800-194924200	Weak transcription	Psoas Muscle	Psoas
47	chr3:194917000-194924400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:194917200-194918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:194917200-194918400	Weak transcription	HSMMtube	muscle
50	chr3:194917200-194918600	Weak transcription	Pancreas	Pancrea

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