Variant report

Variant	rs9497743
Chromosome Location	chr6:147616728-147616729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147615081..147617639-chr6:147618287..147620989,3	K562	blood:
2	chr6:147610982..147613437-chr6:147615648..147618340,2	K562	blood:
3	chr6:147541961..147544233-chr6:147614888..147617069,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10440889	0.82[AFR][1000 genomes]
rs60712264	0.88[AFR][1000 genomes]
rs6926790	0.82[AFR][1000 genomes]
rs6927420	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9485139	0.88[AFR][1000 genomes]
rs9485152	1.00[AFR][1000 genomes]
rs9485154	0.94[AFR][1000 genomes]
rs9485162	0.82[AFR][1000 genomes]
rs9497699	0.88[AFR][1000 genomes]
rs9497700	0.88[AFR][1000 genomes]
rs9497701	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9497721	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9497722	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9497726	0.88[AFR][1000 genomes]
rs9497728	0.94[AFR][1000 genomes]
rs9497730	0.82[AFR][1000 genomes]
rs9497731	0.94[AFR][1000 genomes]
rs9497734	0.94[AFR][1000 genomes]
rs9497741	0.94[AFR][1000 genomes]
rs9497751	0.88[AFR][1000 genomes]
rs9497754	0.88[AFR][1000 genomes]
rs9497765	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv522406	chr6:147591022-147635413	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
2	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
4	chr6:147564600-147617000	Weak transcription	Fetal Kidney	kidney
5	chr6:147572800-147617000	Weak transcription	Right Ventricle	heart
6	chr6:147573000-147616800	Weak transcription	Aorta	Aorta
7	chr6:147573200-147617000	Weak transcription	Spleen	Spleen
8	chr6:147578200-147616800	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
10	chr6:147585800-147617200	Weak transcription	Fetal Brain Male	brain
11	chr6:147587000-147618000	Weak transcription	Psoas Muscle	Psoas
12	chr6:147588600-147616800	Weak transcription	Brain Germinal Matrix	brain
13	chr6:147588800-147617000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:147598000-147617000	Strong transcription	K562	blood
15	chr6:147599400-147617000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:147599600-147617000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:147600200-147616800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:147600200-147618800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:147600800-147617000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:147601000-147619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:147601200-147617000	Weak transcription	Fetal Lung	lung
22	chr6:147601400-147616800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:147601400-147617200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:147601600-147625200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:147603200-147617000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:147604800-147616800	Weak transcription	Fetal Thymus	thymus
27	chr6:147606000-147617000	Weak transcription	Stomach Mucosa	stomach
28	chr6:147606400-147616800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:147606400-147617400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:147606400-147618400	Weak transcription	Brain Anterior Caudate	brain
31	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:147609600-147616800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:147609600-147616800	Weak transcription	NH-A	brain
34	chr6:147609600-147617000	Weak transcription	A549	lung
35	chr6:147609800-147616800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:147609800-147667000	Weak transcription	NHEK	skin
37	chr6:147610200-147616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:147610200-147624600	Weak transcription	Brain Substantia Nigra	brain
39	chr6:147610200-147624600	Weak transcription	HMEC	breast
40	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:147610400-147617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:147610400-147617000	Weak transcription	HSMMtube	muscle
43	chr6:147611600-147636200	Weak transcription	HUVEC	blood vessel
44	chr6:147613000-147617000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr6:147613000-147618000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:147613200-147620600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:147613600-147617400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr6:147613800-147617400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:147614200-147618800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr6:147614400-147616800	Strong transcription	Monocytes-CD14+_RO01746	blood

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