Variant report

Variant	rs17018378
Chromosome Location	chr1:212210027-212210028
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	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
2	POLR2A	chr1:212208237-212210046	K562	blood:	n/a	n/a
3	TEAD4	chr1:212207823-212210112	K562	blood:	n/a	n/a
4	CHD1	chr1:212208280-212210101	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr1:212209961-212210172	Hela-S3	cervix:	n/a	n/a
6	MYC	chr1:212208186-212210058	MCF10A-Er-Src	breast:	n/a	chr1:212208643-212208652
7	HCFC1	chr1:212207412-212210962	Hela-S3	cervix:	n/a	n/a
8	NR2F2	chr1:212207754-212210160	K562	blood:	n/a	n/a
9	IRF1	chr1:212208157-212210125	K562	blood:	n/a	chr1:212210092-212210099 chr1:212209001-212209015
10	SIN3A	chr1:212208028-212210595	H1-hESC	embryonic stem cell:	n/a	chr1:212210126-212210136
11	MXI1	chr1:212207678-212210787	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr1:212208086-212210415	Hela-S3	cervix:	n/a	n/a
13	RFX5	chr1:212207846-212210548	Hela-S3	cervix:	n/a	chr1:212209057-212209066
14	IRF1	chr1:212208076-212210065	K562	blood:	n/a	chr1:212209001-212209015

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	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
4	chr1:212198329..212200446-chr1:212208407..212211007,2	MCF-7	breast:
5	chr1:211848085..211850808-chr1:212208417..212210048,2	K562	blood:
6	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:
7	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000066027	Chromatin interaction
ENSG00000212187	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000229258	Chromatin interaction
ENSG00000117650	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000123684	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[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018259	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs17018260	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018263	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[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[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018330	0.87[YRI][hapmap]
rs17018382	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	0.93[LWK][hapmap];0.91[MKK][hapmap];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[ASW][hapmap];0.93[LWK][hapmap];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	0.88[YRI][hapmap]

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212206800-212210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:212207000-212210400	Active TSS	NHLF	lung
3	chr1:212207000-212211000	Active TSS	GM12878-XiMat	blood
4	chr1:212207200-212210600	Active TSS	Hela-S3	cervix
5	chr1:212207200-212210600	Active TSS	K562	blood
6	chr1:212207200-212210800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:212207200-212211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:212207400-212210200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212207400-212210400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:212207400-212210400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:212207400-212210400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:212207400-212210400	Active TSS	Fetal Intestine Large	intestine
13	chr1:212207400-212210400	Active TSS	HMEC	breast
14	chr1:212207400-212210600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:212207400-212210600	Active TSS	NHEK	skin
16	chr1:212207400-212210800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:212207400-212210800	Active TSS	A549	lung
18	chr1:212207400-212211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:212207600-212210200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:212207600-212210200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:212207600-212210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:212207600-212210400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:212207600-212210400	Active TSS	HSMM	muscle
24	chr1:212207600-212210400	Active TSS	NH-A	brain
25	chr1:212207600-212210600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:212207600-212210600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:212207600-212210600	Active TSS	NHDF-Ad	bronchial
28	chr1:212207600-212210800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:212207600-212210800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:212207600-212210800	Active TSS	Fetal Kidney	kidney
31	chr1:212207600-212210800	Active TSS	Fetal Muscle Leg	muscle
32	chr1:212207600-212211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:212207600-212211400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:212207600-212211400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:212207800-212210400	Active TSS	Fetal Muscle Trunk	muscle
36	chr1:212207800-212210600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:212207800-212210600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:212207800-212210600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:212207800-212210600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:212207800-212210600	Active TSS	Thymus	Thymus
41	chr1:212207800-212210800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:212207800-212211400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:212208000-212210200	Active TSS	Fetal Heart	heart
44	chr1:212208000-212210400	Active TSS	Dnd41	blood
45	chr1:212208000-212210800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr1:212208200-212210200	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr1:212208200-212210400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:212208200-212210400	Active TSS	Brain Germinal Matrix	brain
49	chr1:212208400-212211200	Active TSS	Fetal Thymus	thymus
50	chr1:212209200-212210400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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