Variant report

Variant	rs10011412
Chromosome Location	chr4:3073254-3073255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr4:3072421-3073303	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:3068906..3071079-chr4:3073190..3075687,2	MCF-7	breast:
2	chr4:3063869..3067673-chr4:3071743..3074238,3	K562	blood:
3	chr4:3065221..3068395-chr4:3071743..3074538,3	K562	blood:

Variant related genes	Relation type
HTT	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10000252	1.00[CEU][hapmap]
rs10002065	1.00[CEU][hapmap]
rs10009229	1.00[CEU][hapmap]
rs10009935	1.00[CEU][hapmap]
rs10010375	1.00[CEU][hapmap]
rs10011127	1.00[CEU][hapmap]
rs10014333	1.00[CEU][hapmap]
rs10016755	1.00[CEU][hapmap]
rs1419036	1.00[CEU][hapmap]
rs16843866	1.00[CEU][hapmap]
rs16843869	1.00[CEU][hapmap]
rs2471343	1.00[CEU][hapmap]
rs2515931	1.00[CEU][hapmap]
rs2515934	1.00[CEU][hapmap]
rs28431418	0.95[EUR][1000 genomes]
rs28595292	0.81[EUR][1000 genomes]
rs28834148	0.81[EUR][1000 genomes]
rs363138	1.00[CEU][hapmap]
rs61791257	0.86[AFR][1000 genomes]
rs61791258	0.85[AFR][1000 genomes]
rs61792460	0.86[AFR][1000 genomes]
rs73086140	0.86[AFR][1000 genomes]
rs7693317	1.00[CEU][hapmap]
rs9291159	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9991144	1.00[CEU][hapmap]
rs9993542	1.00[CEU][hapmap];0.98[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3048200-3075200	Weak transcription	Right Atrium	heart
2	chr4:3049600-3074800	Weak transcription	Lung	lung
3	chr4:3058200-3075200	Weak transcription	Psoas Muscle	Psoas
4	chr4:3060800-3074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:3061000-3074800	Weak transcription	Spleen	Spleen
6	chr4:3061600-3075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:3062200-3075000	Weak transcription	Adipose Nuclei	Adipose
8	chr4:3062600-3074000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3062600-3074000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:3063800-3075200	Weak transcription	Right Ventricle	heart
11	chr4:3064400-3075000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:3064800-3074800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:3064800-3075000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:3067600-3073800	Weak transcription	NHLF	lung
15	chr4:3068800-3075000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:3069600-3073800	Weak transcription	Placenta	Placenta
17	chr4:3069600-3075200	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:3071800-3075000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:3072200-3075200	Enhancers	Liver	Liver
20	chr4:3072400-3073600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:3072400-3073800	Enhancers	NH-A	brain
22	chr4:3072400-3074200	Enhancers	HepG2	liver
23	chr4:3072600-3073600	Enhancers	HSMMtube	muscle
24	chr4:3072800-3073600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:3072800-3073600	Enhancers	HSMM	muscle
26	chr4:3072800-3074000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:3072800-3074800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:3072800-3075200	Weak transcription	Gastric	stomach
29	chr4:3073000-3073400	Enhancers	Osteobl	bone
30	chr4:3073000-3074000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:3073000-3074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:3073000-3074800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:3073200-3073800	Enhancers	NHDF-Ad	bronchial
34	chr4:3073200-3075000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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