Variant report

Variant	rs11871306
Chromosome Location	chr17:44954984-44954985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:44952111..44955510-chr17:44998315..45000785,3	MCF-7	breast:
2	chr17:44944687..44947867-chr17:44952992..44955738,3	K562	blood:
3	chr17:44948071..44950591-chr17:44953970..44955580,2	K562	blood:
4	chr17:44953929..44955501-chr17:44959396..44962012,2	K562	blood:

Variant related genes	Relation type
ENSG00000261886	Chromatin interaction
ENSG00000210709	Chromatin interaction
ENSG00000108433	Chromatin interaction
ENSG00000262633	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10491148	1.00[CEU][hapmap]
rs1638450	1.00[CEU][hapmap]
rs16941271	1.00[CEU][hapmap]
rs16941273	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs16941300	1.00[CEU][hapmap]
rs16941306	1.00[CEU][hapmap]
rs16941312	1.00[CEU][hapmap]
rs16941317	1.00[CEU][hapmap]
rs16941318	1.00[CEU][hapmap]
rs16941324	1.00[CEU][hapmap]
rs16941390	1.00[CEU][hapmap]
rs197914	1.00[TSI][hapmap]
rs197935	1.00[CEU][hapmap]
rs754474	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8082211	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44936000-44956000	Weak transcription	Right Atrium	heart
2	chr17:44950800-44957000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:44952400-44956200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr17:44952400-44956200	Enhancers	Pancreas	Pancrea
5	chr17:44952400-44956800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr17:44952800-44955200	Weak transcription	Fetal Muscle Leg	muscle
7	chr17:44953400-44955000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:44953400-44955200	Enhancers	Esophagus	oesophagus
9	chr17:44953600-44955000	Enhancers	Gastric	stomach
10	chr17:44953600-44956800	Enhancers	Placenta	Placenta
11	chr17:44953800-44956600	Enhancers	Spleen	Spleen
12	chr17:44954000-44956400	Enhancers	Adipose Nuclei	Adipose
13	chr17:44954000-44956400	Enhancers	Fetal Thymus	thymus
14	chr17:44954200-44955600	Enhancers	Fetal Muscle Trunk	muscle
15	chr17:44954200-44956000	Weak transcription	Right Ventricle	heart
16	chr17:44954400-44956400	Enhancers	Lung	lung
17	chr17:44954400-44956400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr17:44954600-44956400	Enhancers	Brain Hippocampus Middle	brain
19	chr17:44954800-44955200	Bivalent Enhancer	Brain Anterior Caudate	brain
20	chr17:44954800-44955200	Enhancers	Dnd41	blood
21	chr17:44954800-44955400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:44954800-44955600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr17:44954800-44955600	Enhancers	HSMMtube	muscle
24	chr17:44954800-44955800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:44954800-44956000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:44954800-44956000	Enhancers	Thymus	Thymus
27	chr17:44954800-44956200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:44954800-44956200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr17:44954800-44956400	Enhancers	Primary neutrophils fromperipheralblood	blood

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