Variant report

Variant	rs4134998
Chromosome Location	chr17:38445445-38445446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38445297-38445852	HepG2	liver:	n/a	n/a
2	ZKSCAN1	chr17:38445358-38445629	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr17:38445382-38445755	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:38445086-38446123	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38442976..38445496-chr17:38498582..38500444,2	K562	blood:
2	chr17:38278634..38280743-chr17:38443874..38446945,3	K562	blood:
3	chr17:38442854..38446302-chr17:38456093..38459908,5	K562	blood:
4	chr17:38331593..38335002-chr17:38443466..38446781,3	MCF-7	breast:
5	chr17:38374160..38377020-chr17:38442777..38445786,6	K562	blood:
6	chr17:38444029..38445656-chr17:38445740..38447882,2	MCF-7	breast:
7	chr17:38443836..38445991-chr17:38477001..38479281,2	MCF-7	breast:
8	chr17:38178625..38181576-chr17:38444051..38445917,2	K562	blood:
9	chr17:38442528..38445834-chr17:38472414..38479758,11	K562	blood:
10	chr17:38444091..38445797-chr17:38518906..38522054,3	MCF-7	breast:

No data

Variant related genes	Relation type
CDC6	TF binding region
ENSG00000008838	Chromatin interaction
ENSG00000265666	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000094804	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs10512482	0.92[EUR][1000 genomes]
rs1104761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540720	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11867902	1.00[CEU][hapmap]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965660	0.92[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965778	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17616365	1.00[AMR][1000 genomes]
rs17616543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679361	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2012667	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229773	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526298	0.92[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283417	0.92[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135030	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45612441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs8077482	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9899425	0.92[EUR][1000 genomes]
rs9900154	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9906274	1.00[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[EUR][1000 genomes]
rs9915775	0.92[EUR][1000 genomes]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38443800-38445600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr17:38443800-38445600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr17:38443800-38445600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:38443800-38445600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:38443800-38445600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:38443800-38445600	Active TSS	HSMM	muscle
7	chr17:38443800-38445600	Active TSS	NHLF	lung
8	chr17:38443800-38446000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:38444600-38445600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr17:38444600-38445600	Enhancers	Primary B cells from cord blood	blood
11	chr17:38444600-38445600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr17:38444600-38445600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr17:38444600-38445800	Active TSS	NH-A	brain
14	chr17:38444600-38446600	Weak transcription	Gastric	stomach
15	chr17:38444600-38446600	Weak transcription	HSMMtube	muscle
16	chr17:38444600-38446800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:38444600-38446800	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:38444600-38451600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:38444600-38454600	Weak transcription	Ovary	ovary
20	chr17:38444600-38459400	Weak transcription	Brain Angular Gyrus	brain
21	chr17:38444600-38459400	Weak transcription	Spleen	Spleen
22	chr17:38444600-38459600	Weak transcription	Brain Anterior Caudate	brain
23	chr17:38444600-38459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:38444600-38459600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:38444800-38445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:38444800-38445600	Enhancers	Fetal Lung	lung
27	chr17:38444800-38445600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr17:38444800-38446200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:38444800-38446600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:38444800-38446600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:38444800-38446600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:38444800-38446600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:38444800-38446800	Weak transcription	Liver	Liver
34	chr17:38444800-38446800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr17:38444800-38446800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:38444800-38446800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:38444800-38447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:38444800-38447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr17:38444800-38447200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:38444800-38449400	Weak transcription	Adipose Nuclei	Adipose
41	chr17:38444800-38451800	Weak transcription	Fetal Brain Female	brain
42	chr17:38444800-38459200	Weak transcription	Fetal Intestine Large	intestine
43	chr17:38444800-38459400	Weak transcription	Fetal Kidney	kidney
44	chr17:38444800-38459400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:38444800-38459600	Weak transcription	Right Ventricle	heart
46	chr17:38444800-38459600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr17:38444800-38462600	Weak transcription	Esophagus	oesophagus
48	chr17:38445000-38445800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:38445000-38446000	Enhancers	Thymus	Thymus
50	chr17:38445000-38452000	Weak transcription	Fetal Intestine Small	intestine

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