Variant report

Variant	rs73271228
Chromosome Location	chr6:166867454-166867455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166867376..166869497-chr6:166875533..166878478,2	K562	blood:
2	chr6:166867400..166870305-chr6:166873619..166875332,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11961497	0.83[AMR][1000 genomes]
rs11963687	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59930510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60507269	1.00[AMR][1000 genomes]
rs60925106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61129869	0.83[AMR][1000 genomes]
rs6937207	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269288	1.00[AMR][1000 genomes]
rs73269293	0.83[AMR][1000 genomes]
rs73269295	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271267	0.81[AFR][1000 genomes]

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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886938	chr6:166859725-166904398	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166825200-166875800	Weak transcription	Colonic Mucosa	Colon
4	chr6:166827000-166873400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:166833200-166879000	Weak transcription	NH-A	brain
6	chr6:166833400-166879000	Weak transcription	HSMM	muscle
7	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:166846000-166881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:166850200-166870000	Weak transcription	Right Atrium	heart
10	chr6:166861400-166873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:166862000-166871600	Weak transcription	HMEC	breast
12	chr6:166862200-166869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:166862400-166871000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:166862400-166871000	Weak transcription	NHDF-Ad	bronchial
15	chr6:166862400-166873800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:166862400-166900600	Weak transcription	Primary T cells from cord blood	blood
17	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:166862600-166870000	Weak transcription	Osteobl	bone
19	chr6:166862600-166870800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:166862600-166871600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:166862600-166878800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:166862600-166879400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:166862600-166883000	Weak transcription	Aorta	Aorta
24	chr6:166862600-166883000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:166862800-166869400	Weak transcription	Left Ventricle	heart
26	chr6:166862800-166870200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:166862800-166871600	Weak transcription	Liver	Liver
28	chr6:166862800-166873800	Weak transcription	Spleen	Spleen
29	chr6:166862800-166878000	Weak transcription	HSMMtube	muscle
30	chr6:166863200-166869000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:166863400-166871000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:166863400-166876600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:166863600-166900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:166863600-166902000	Weak transcription	Small Intestine	intestine
35	chr6:166864000-166869800	Weak transcription	Stomach Mucosa	stomach
36	chr6:166864000-166871000	Weak transcription	Primary B cells from cord blood	blood
37	chr6:166864200-166871000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:166864200-166872600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:166864600-166867800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:166864600-166870600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:166864600-166874000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:166864600-166883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:166864800-166868800	Weak transcription	Fetal Brain Female	brain
44	chr6:166864800-166869000	Weak transcription	Fetal Intestine Small	intestine
45	chr6:166864800-166869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:166864800-166869200	Weak transcription	Ovary	ovary
47	chr6:166864800-166869800	Weak transcription	HUVEC	blood vessel
48	chr6:166864800-166870000	Weak transcription	Right Ventricle	heart
49	chr6:166864800-166871400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:166864800-166871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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