Variant report

Variant	rs7225255
Chromosome Location	chr17:37391378-37391379
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:37391340-37391490	GM12873	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37352537..37354970-chr17:37391325..37393533,2	MCF-7	breast:
2	chr17:37354735..37356478-chr17:37390593..37392113,2	K562	blood:
3	chr17:37361105..37363685-chr17:37390530..37393610,5	MCF-7	breast:
4	chr17:37361416..37362954-chr17:37390623..37392788,2	K562	blood:
5	chr17:37361416..37365724-chr17:37389255..37392199,4	K562	blood:
6	chr17:37375965..37378168-chr17:37389054..37391822,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265460	TF binding region
ENSG00000067191	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12946021	0.98[AFR][1000 genomes]
rs12947913	0.82[AFR][1000 genomes]
rs12947984	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs34335611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34729392	0.81[AFR][1000 genomes]
rs35662374	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35790121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369739	0.80[AFR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37388400-37391800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:37388400-37393400	Weak transcription	Right Ventricle	heart
3	chr17:37388400-37394600	Weak transcription	Gastric	stomach
4	chr17:37388400-37394600	Weak transcription	Psoas Muscle	Psoas
5	chr17:37388400-37395000	Weak transcription	GM12878-XiMat	blood
6	chr17:37388400-37396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:37388600-37394200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:37388600-37394400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:37388600-37394600	Weak transcription	Pancreas	Pancrea
10	chr17:37388800-37391400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:37388800-37391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:37388800-37391800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:37388800-37391800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:37388800-37391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr17:37388800-37391800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:37388800-37391800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:37388800-37391800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr17:37388800-37391800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:37388800-37391800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:37388800-37391800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:37388800-37391800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:37388800-37391800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr17:37388800-37391800	Weak transcription	Fetal Brain Male	brain
24	chr17:37388800-37391800	Weak transcription	Fetal Lung	lung
25	chr17:37388800-37391800	Weak transcription	A549	lung
26	chr17:37388800-37391800	Weak transcription	Dnd41	blood
27	chr17:37388800-37391800	Weak transcription	Hela-S3	cervix
28	chr17:37388800-37391800	Weak transcription	K562	blood
29	chr17:37388800-37392000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:37388800-37392000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:37388800-37392000	Weak transcription	Fetal Brain Female	brain
32	chr17:37388800-37394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:37388800-37396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:37388800-37396200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:37389000-37394000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:37389000-37394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:37389200-37392600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:37389400-37391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:37389400-37392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:37391200-37395800	Weak transcription	Right Atrium	heart

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