Variant report

Variant	rs73719741
Chromosome Location	chr6:5201007-5201008
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5200460..5201968-chr6:5202592..5204399,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11242997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11242998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11242999	1.00[EUR][1000 genomes]
rs13202971	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203250	1.00[EUR][1000 genomes]
rs13212749	1.00[EUR][1000 genomes]
rs13213703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219584	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139776	1.00[ASN][1000 genomes]
rs17139831	1.00[ASN][1000 genomes]
rs17139838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139846	1.00[ASN][1000 genomes]
rs17139848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34041880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34120947	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34146318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34170037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34265509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34421021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34440991	1.00[EUR][1000 genomes]
rs34449449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34512910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34711553	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34713043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34786730	1.00[ASN][1000 genomes]
rs34903116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34908251	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34968006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34968842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35039476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35073344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35277899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35324863	1.00[EUR][1000 genomes]
rs35372007	1.00[ASN][1000 genomes]
rs35525232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35587351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656919	1.00[ASN][1000 genomes]
rs35864979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35869391	1.00[EUR][1000 genomes]
rs35972876	1.00[ASN][1000 genomes]
rs36007403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36010137	1.00[EUR][1000 genomes]
rs36018728	1.00[EUR][1000 genomes]
rs55720402	1.00[EUR][1000 genomes]
rs56034435	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343430	1.00[EUR][1000 genomes]
rs58508775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59994371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60489951	1.00[ASN][1000 genomes]
rs60890075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61089858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385015	1.00[ASN][1000 genomes]
rs6901286	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555886	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557546	1.00[ASN][1000 genomes]
rs71557549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73365051	1.00[ASN][1000 genomes]
rs73365064	1.00[ASN][1000 genomes]
rs73365082	1.00[ASN][1000 genomes]
rs73718006	1.00[EUR][1000 genomes]
rs73718008	1.00[EUR][1000 genomes]
rs73718010	1.00[EUR][1000 genomes]
rs73718012	1.00[EUR][1000 genomes]
rs73719720	1.00[ASN][1000 genomes]
rs73719743	1.00[EUR][1000 genomes]
rs73719759	1.00[EUR][1000 genomes]
rs73719775	1.00[EUR][1000 genomes]
rs73719776	1.00[EUR][1000 genomes]
rs7744301	1.00[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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5201200	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:5176200-5203600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
4	chr6:5177800-5205200	Weak transcription	Aorta	Aorta
5	chr6:5179200-5207600	Weak transcription	Primary B cells from cord blood	blood
6	chr6:5180200-5212200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:5180600-5205000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:5180600-5205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:5180600-5208200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:5181200-5204600	Weak transcription	Esophagus	oesophagus
11	chr6:5182000-5213600	Weak transcription	Gastric	stomach
12	chr6:5186400-5205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:5186600-5202600	Weak transcription	Primary T cells from cord blood	blood
14	chr6:5189000-5213200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:5189400-5205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:5191000-5202400	Weak transcription	Dnd41	blood
17	chr6:5191000-5206600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:5191200-5201400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:5191200-5202400	Weak transcription	HMEC	breast
20	chr6:5191600-5201400	Weak transcription	NHEK	skin
21	chr6:5191600-5202400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:5191600-5202800	Weak transcription	Hela-S3	cervix
23	chr6:5191600-5204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:5191800-5201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:5191800-5204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:5191800-5204800	Weak transcription	HSMM	muscle
27	chr6:5191800-5206000	Weak transcription	NHLF	lung
28	chr6:5191800-5206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:5192000-5203800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:5192000-5205800	Weak transcription	A549	lung
31	chr6:5192200-5201400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:5192800-5213000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:5193000-5201600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:5193000-5202600	Weak transcription	Placenta	Placenta
35	chr6:5193000-5204200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:5193000-5205200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:5193200-5204600	Weak transcription	Lung	lung
38	chr6:5193200-5212400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:5193400-5203800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:5193400-5204200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:5193400-5204200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:5193400-5204600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:5193400-5205000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:5193600-5203800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:5193800-5202200	Weak transcription	Brain Substantia Nigra	brain
46	chr6:5193800-5203600	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:5194000-5203800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:5194000-5220800	Weak transcription	GM12878-XiMat	blood
49	chr6:5194600-5203800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:5194800-5202800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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