Variant report

Variant	rs12945616
Chromosome Location	chr17:59877222-59877223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59876462..59878052-chr6:21599536..21601804,2	MCF-7	breast:
2	chr17:59800856..59804163-chr17:59876065..59879949,4	MCF-7	breast:
3	chr17:59760845..59762772-chr17:59875907..59878098,2	MCF-7	breast:
4	chr17:59485536..59487497-chr17:59877149..59880226,3	MCF-7	breast:
5	chr17:59876221..59877900-chr17:59899505..59902130,2	K562	blood:
6	chr17:59876155..59878975-chr7:26238906..26240517,2	MCF-7	breast:
7	chr17:59875243..59877912-chr17:59882843..59885260,2	K562	blood:
8	chr17:59877060..59879935-chr20:55851000..55853475,2	MCF-7	breast:
9	chr17:59606709..59608528-chr17:59876673..59878930,2	MCF-7	breast:
10	chr12:120729403..120731557-chr17:59876926..59879782,2	MCF-7	breast:
11	chr17:59876832..59880358-chr17:59887599..59890424,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10163503	1.00[LWK][hapmap]
rs4988345	1.00[LWK][hapmap]
rs4988346	1.00[LWK][hapmap]
rs4988347	1.00[CEU][hapmap]
rs7342968	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
3	nsv908674	chr17:59800827-59899790	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	nsv575841	chr17:59812748-59914681	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv575842	chr17:59812748-59927307	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
6	nsv908675	chr17:59835864-59937286	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
7	esv1794309	chr17:59861640-59907952	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	32 gene(s)	inside rSNPs	diseases
8	esv1827960	chr17:59869069-59897455	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
9	nsv575843	chr17:59869081-59935723	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
3	chr17:59844000-59882600	Weak transcription	NHLF	lung
4	chr17:59844600-59882600	Weak transcription	HMEC	breast
5	chr17:59847600-59883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:59848800-59882600	Weak transcription	NHEK	skin
7	chr17:59848800-59911200	Weak transcription	HUVEC	blood vessel
8	chr17:59849400-59887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:59849800-59887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:59850000-59887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:59850000-59887000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr17:59851200-59902600	Weak transcription	Fetal Stomach	stomach
13	chr17:59852600-59898000	Weak transcription	Fetal Intestine Small	intestine
14	chr17:59857000-59888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:59860200-59883200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:59862000-59887200	Weak transcription	Fetal Kidney	kidney
17	chr17:59863600-59925000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:59866000-59880800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:59866000-59883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr17:59866400-59883400	Weak transcription	Fetal Lung	lung
21	chr17:59867200-59881400	Strong transcription	Dnd41	blood
22	chr17:59868400-59888600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:59869200-59880600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:59869200-59898200	Weak transcription	Fetal Muscle Leg	muscle
25	chr17:59869400-59879000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:59869600-59887400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:59870000-59882200	Weak transcription	NHDF-Ad	bronchial
28	chr17:59870400-59933400	Weak transcription	Fetal Intestine Large	intestine
29	chr17:59871000-59878000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:59871000-59880600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr17:59872000-59882200	Weak transcription	HSMM	muscle
32	chr17:59872800-59879600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:59873000-59882600	Weak transcription	A549	lung
34	chr17:59873200-59905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:59873800-59883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:59874000-59878600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:59874000-59883400	Weak transcription	K562	blood
38	chr17:59874000-59887000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:59874400-59879000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:59874400-59910600	Weak transcription	Hela-S3	cervix
41	chr17:59874600-59887200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr17:59874800-59879000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr17:59875400-59878600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:59875400-59882600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:59875400-59883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr17:59875400-59886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:59875600-59879600	Strong transcription	HepG2	liver
48	chr17:59876200-59877600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:59876200-59879400	Strong transcription	Fetal Thymus	thymus
50	chr17:59876600-59885600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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