Variant report

Variant	rs17018382
Chromosome Location	chr1:212210677-212210678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:212210583-212210751	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr1:212210359-212210775	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr1:212207802-212211007	MCF10A-Er-Src	breast:	n/a	chr1:212209093-212209101 chr1:212209082-212209090 chr1:212209077-212209092 chr1:212208511-212208518 chr1:212209082-212209090 chr1:212209094-212209101 chr1:212209081-212209091 chr1:212208511-212208518 chr1:212209071-212209080 chr1:212209081-212209092 chr1:212208587-212208596 chr1:212209082-212209093 chr1:212209073-212209082 chr1:212209081-212209089 chr1:212208949-212208958 chr1:212209002-212209011 chr1:212208511-212208518 chr1:212209082-212209089 chr1:212208898-212208907
4	HCFC1	chr1:212207412-212210962	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:212210205-212210681	Hela-S3	cervix:	n/a	n/a
6	FOS	chr1:212210664-212210690	MCF10A-Er-Src	breast:	n/a	n/a
7	MXI1	chr1:212207678-212210787	SK-N-SH	brain:	n/a	n/a
8	CEBPB	chr1:212210584-212210777	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
2	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
3	chr1:212198329..212200446-chr1:212208407..212211007,2	MCF-7	breast:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000212187	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17018239	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018259	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17018260	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018263	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17018265	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018280	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018330	0.87[YRI][hapmap]
rs17018378	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018414	0.88[YRI][hapmap]
rs17018509	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34836942	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs57157835	0.82[AFR][1000 genomes]
rs57590060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58628059	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58894487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60848591	0.82[AFR][1000 genomes]
rs6676589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072531	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091040	1.00[AMR][1000 genomes]
rs73091041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091053	0.82[AFR][1000 genomes]
rs73091059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091210	0.94[AFR][1000 genomes]
rs7517502	0.87[YRI][hapmap]

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212207000-212211000	Active TSS	GM12878-XiMat	blood
2	chr1:212207200-212210800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:212207200-212211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:212207400-212210800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:212207400-212210800	Active TSS	A549	lung
6	chr1:212207400-212211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:212207600-212210800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:212207600-212210800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:212207600-212210800	Active TSS	Fetal Kidney	kidney
10	chr1:212207600-212210800	Active TSS	Fetal Muscle Leg	muscle
11	chr1:212207600-212211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:212207600-212211400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:212207600-212211400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:212207800-212210800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:212207800-212211400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:212208000-212210800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:212208400-212211200	Active TSS	Fetal Thymus	thymus
18	chr1:212209200-212212000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:212209400-212210800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:212209400-212217800	Weak transcription	Small Intestine	intestine
21	chr1:212209600-212226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:212209800-212211200	Flanking Active TSS	HUVEC	blood vessel
24	chr1:212209800-212211400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:212209800-212211600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:212209800-212214000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:212210000-212210800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:212210000-212210800	Weak transcription	Fetal Brain Male	brain
29	chr1:212210000-212211200	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr1:212210200-212210800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:212210200-212210800	Active TSS	Fetal Intestine Small	intestine
32	chr1:212210200-212211000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr1:212210200-212211200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:212210200-212212000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:212210200-212213800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:212210200-212214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:212210400-212210800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:212210400-212210800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:212210400-212210800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:212210400-212210800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:212210400-212210800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr1:212210400-212210800	Enhancers	Fetal Heart	heart
43	chr1:212210400-212210800	Flanking Active TSS	HMEC	breast
44	chr1:212210400-212210800	Flanking Active TSS	NH-A	brain
45	chr1:212210400-212211000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:212210400-212211200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:212210400-212211200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:212210400-212211600	Enhancers	Fetal Lung	lung
49	chr1:212210400-212211600	Flanking Active TSS	HepG2	liver
50	chr1:212210400-212214000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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