Variant report

Variant	rs1457818
Chromosome Location	chr17:37374646-37374647
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37366575..37370398-chr17:37373335..37376242,3	K562	blood:
2	chr17:37373766..37377768-chr17:37379846..37383234,6	K562	blood:
3	chr17:37373629..37376608-chr17:37376916..37380039,3	MCF-7	breast:
4	chr17:37370884..37374058-chr17:37374531..37377383,3	K562	blood:
5	chr17:37356499..37358458-chr17:37373168..37375938,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108298	Chromatin interaction
ENSG00000141750	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12950162	0.85[EUR][1000 genomes]
rs16968682	0.81[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs16968720	0.90[CEU][hapmap]
rs34739816	0.91[EUR][1000 genomes]
rs35290672	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35421081	0.81[EUR][1000 genomes]
rs4999757	1.00[GIH][hapmap];0.82[TSI][hapmap]
rs55771778	0.96[EUR][1000 genomes]
rs67691062	0.84[EUR][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	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37366800-37375400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:37366800-37379800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:37368800-37375600	Weak transcription	Right Atrium	heart
4	chr17:37373400-37375600	Weak transcription	Left Ventricle	heart
5	chr17:37374000-37374800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:37374000-37374800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:37374000-37374800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:37374000-37375400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr17:37374200-37374800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:37374200-37376800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr17:37374200-37379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:37374400-37374800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:37374400-37374800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr17:37374400-37374800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:37374400-37374800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:37374400-37374800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:37374400-37374800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:37374400-37374800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:37374400-37374800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:37374400-37374800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr17:37374400-37376600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr17:37374400-37376600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr17:37374400-37376800	Enhancers	Right Ventricle	heart
24	chr17:37374600-37374800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr17:37374600-37374800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr17:37374600-37374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:37374600-37374800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
28	chr17:37374600-37374800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:37374600-37374800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:37374600-37374800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr17:37374600-37375200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:37374600-37376800	Enhancers	Cortex derived primary cultured neurospheres	brain

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