Variant report

Variant	rs6446723
Chromosome Location	chr4:3126813-3126814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3119274..3121852-chr4:3125858..3127646,2	K562	blood:
2	chr4:3119274..3122610-chr4:3124266..3127646,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10012793	0.90[AFR][1000 genomes]
rs110501	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs16843804	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs16843836	0.96[ASN][1000 genomes]
rs17780797	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1891701	0.84[ASN][1000 genomes]
rs2024115	0.81[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2071655	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071662	0.84[EUR][1000 genomes]
rs2071704	0.84[CEU][hapmap]
rs2237006	0.82[EUR][1000 genomes]
rs2285086	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285087	0.86[ASN][1000 genomes]
rs2298971	0.88[EUR][1000 genomes]
rs28403215	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28867436	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs362273	0.81[JPT][hapmap]
rs362306	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs362319	0.84[EUR][1000 genomes]
rs362331	0.92[CEU][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs363063	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs363064	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs363066	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs363091	0.93[YRI][hapmap]
rs363092	0.89[EUR][1000 genomes]
rs363096	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs363106	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs3856973	0.96[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3905238	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4690011	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4690071	0.86[ASN][1000 genomes]
rs4690072	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4690073	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4690075	0.80[ASN][1000 genomes]
rs55962025	0.97[ASN][1000 genomes]
rs59147561	0.89[AFR][1000 genomes]
rs59613878	0.83[ASN][1000 genomes]
rs60197694	0.84[ASN][1000 genomes]
rs61348208	0.86[ASN][1000 genomes]
rs61792530	0.85[ASN][1000 genomes]
rs6446722	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6828615	0.90[AFR][1000 genomes]
rs6834455	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6843895	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6844859	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.88[EUR][1000 genomes]
rs6855981	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73191188	0.87[ASN][1000 genomes]
rs7659144	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7665816	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs7685686	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs7688390	0.91[AFR][1000 genomes]
rs7691627	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs82333	0.96[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs916171	0.96[CEU][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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 target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription 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	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:3106400-3145000	Strong transcription	Dnd41	blood
8	chr4:3108600-3136600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
12	chr4:3109400-3130400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
14	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:3116000-3136200	Strong transcription	Liver	Liver
19	chr4:3117800-3129000	Weak transcription	Psoas Muscle	Psoas
20	chr4:3118200-3128600	Weak transcription	Small Intestine	intestine
21	chr4:3118400-3133600	Weak transcription	Hela-S3	cervix
22	chr4:3118600-3128400	Weak transcription	Fetal Brain Male	brain
23	chr4:3118600-3128800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:3118800-3132200	Weak transcription	K562	blood
25	chr4:3119000-3133000	Weak transcription	HMEC	breast
26	chr4:3119800-3128600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:3120400-3128600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:3120400-3128600	Weak transcription	Spleen	Spleen
29	chr4:3121400-3127400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:3122000-3130600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:3123200-3128400	Weak transcription	A549	lung
32	chr4:3124000-3128600	Weak transcription	Right Ventricle	heart
33	chr4:3124000-3135400	Weak transcription	Stomach Mucosa	stomach
34	chr4:3124200-3127200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:3124200-3127200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:3124200-3127200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:3124200-3127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:3124200-3127200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:3124200-3127200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:3124200-3127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:3124200-3127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:3124200-3127200	Weak transcription	Aorta	Aorta
43	chr4:3124200-3127200	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:3124200-3127200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:3124200-3127200	Weak transcription	Colonic Mucosa	Colon
46	chr4:3124200-3127200	Weak transcription	Esophagus	oesophagus
47	chr4:3124200-3127200	Weak transcription	Fetal Intestine Small	intestine
48	chr4:3124200-3127200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:3124200-3127200	Weak transcription	Fetal Thymus	thymus
50	chr4:3124200-3127200	Weak transcription	Gastric	stomach

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