Variant report

Variant	rs17017406
Chromosome Location	chr1:211496909-211496910
allele	A/C
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	CTCF	chr1:211496841-211497124	GM19238	blood:	n/a	chr1:211496971-211496987
2	CTCF	chr1:211496738-211497193	IMR90	lung:	n/a	chr1:211496971-211496987
3	FOXA1	chr1:211496828-211497160	T-47D	breast:	n/a	n/a
4	CTCF	chr1:211496900-211497050	HPAF	blood vessel:	n/a	chr1:211496971-211496987
5	CTCF	chr1:211496840-211496990	HEEpiC	esophagus:	n/a	chr1:211496971-211496987
6	MXI1	chr1:211496808-211497131	GM12878	blood:	n/a	n/a
7	CTCF	chr1:211496815-211497211	K562	blood:	n/a	chr1:211496971-211496987
8	ARID3A	chr1:211496847-211497161	HepG2	liver:	n/a	n/a
9	CTCF	chr1:211496880-211497030	GM12801	blood:	n/a	chr1:211496971-211496987
10	STAT3	chr1:211496764-211497005	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr1:211496846-211497122	ECC-1	luminal epithelium:	n/a	chr1:211496971-211496987
12	CTCF	chr1:211496900-211497050	AG09319	gingival:	n/a	chr1:211496971-211496987
13	CTCF	chr1:211496900-211497050	K562	blood:	n/a	chr1:211496971-211496987
14	CTCF	chr1:211496841-211497069	A549	lung:	n/a	chr1:211496971-211496987
15	RCOR1	chr1:211496797-211497177	GM12878	blood:	n/a	n/a
16	CTCF	chr1:211496833-211497120	GM10266	blood:	n/a	chr1:211496971-211496987
17	POLR2A	chr1:211496663-211497229	HepG2	liver:	n/a	n/a
18	CTCF	chr1:211496861-211497098	GM13976	blood:	n/a	chr1:211496971-211496987
19	CTCF	chr1:211496827-211497115	LNCaP	prostate:	n/a	chr1:211496971-211496987
20	CTCF	chr1:211496900-211497050	HRPEpiC	eye:	n/a	chr1:211496971-211496987
21	CTCF	chr1:211496900-211497050	GM12869	blood:	n/a	chr1:211496971-211496987
22	CTCF	chr1:211496801-211497205	H1-hESC	embryonic stem cell:	n/a	chr1:211496971-211496987
23	YY1	chr1:211496824-211497106	K562	blood:	n/a	chr1:211497001-211497013
24	CTCF	chr1:211496880-211497030	MCF-7	breast:	n/a	chr1:211496971-211496987
25	RAD21	chr1:211496699-211497167	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:211496827-211497105	ProgFib	skin:	n/a	chr1:211496971-211496987
27	CTCF	chr1:211496826-211497120	NHEK	skin:	n/a	chr1:211496971-211496987
28	CTCF	chr1:211496881-211497082	MCF-7	breast:	n/a	chr1:211496971-211496987
29	RAD21	chr1:211496706-211497161	A549	lung:	n/a	n/a
30	CTCF	chr1:211496900-211497050	HCPEpiC	choroid plexus:	n/a	chr1:211496971-211496987
31	CTCF	chr1:211496813-211497131	Medullo	brain:	n/a	chr1:211496971-211496987
32	CTCF	chr1:211496873-211497096	MCF-7	breast:	n/a	chr1:211496971-211496987
33	CTCF	chr1:211496880-211497030	HRPEpiC	eye:	n/a	chr1:211496971-211496987
34	CTCF	chr1:211496900-211497050	SAEC	small airway:	n/a	chr1:211496971-211496987
35	SMC3	chr1:211496767-211497207	Hela-S3	cervix:	n/a	n/a
36	RFX5	chr1:211496790-211497089	GM12878	blood:	n/a	n/a
37	CTCF	chr1:211496800-211496950	WI-38	lung:	n/a	n/a
38	CTCF	chr1:211496880-211497030	Caco-2	colon:	n/a	chr1:211496971-211496987
39	CTCF	chr1:211496659-211497152	K562	blood:	n/a	chr1:211496971-211496987
40	CTCF	chr1:211496900-211497050	HVMF	connective:	n/a	chr1:211496971-211496987
41	CTCFL	chr1:211496895-211497049	K562	blood:	n/a	n/a
42	RAD21	chr1:211496775-211497150	GM12878	blood:	n/a	n/a
43	RAD21	chr1:211496698-211497192	H1-hESC	embryonic stem cell:	n/a	n/a
44	FOS	chr1:211496752-211497155	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr1:211496731-211497267	SK-N-SH_RA	brain:	n/a	n/a
46	RAD21	chr1:211496780-211497199	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr1:211496796-211497156	GM12891	blood:	n/a	chr1:211497001-211497013
48	CTCF	chr1:211496758-211497183	A549	lung:	n/a	chr1:211496971-211496987
49	CTCF	chr1:211496900-211497050	GM12865	blood:	n/a	chr1:211496971-211496987
50	POLR2A	chr1:211496750-211497120	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211496521..211497862-chr1:211828604..211829211,3	K562	blood:
2	chr1:211496635..211497393-chr1:211687095..211687634,2	K562	blood:
3	chr1:211496774..211497302-chr1:211649346..211650013,2	MCF-7	breast:
4	chr1:211496635..211497406-chr1:211649503..211650204,2	MCF-7	breast:
5	chr1:211496486..211497397-chr1:211525936..211526490,2	K562	blood:
6	chr1:211430748..211434395-chr1:211494509..211498724,4	K562	blood:
7	chr1:211495524..211497390-chr1:211498885..211501683,2	MCF-7	breast:
8	chr1:211496521..211497429-chr1:211544682..211545205,2	K562	blood:
9	chr1:211496336..211497406-chr1:211687015..211687898,3	MCF-7	breast:

Variant related genes	Relation type
TRAF5	TF binding region
ENSG00000082512	Chromatin interaction
ENSG00000117625	Chromatin interaction

rs_ID	r²[population]
rs17017352	0.81[AFR][1000 genomes]
rs17017355	0.81[AFR][1000 genomes]
rs17017384	1.00[AFR][1000 genomes]
rs17267540	0.83[AFR][1000 genomes]

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211461200-211499600	Weak transcription	Psoas Muscle	Psoas
2	chr1:211461400-211499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:211461600-211499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211474800-211497000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:211478600-211499800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:211483600-211499600	Weak transcription	Fetal Heart	heart
7	chr1:211486400-211499400	Weak transcription	Stomach Mucosa	stomach
8	chr1:211486400-211500200	Weak transcription	Small Intestine	intestine
9	chr1:211487200-211497000	Weak transcription	Fetal Stomach	stomach
10	chr1:211487200-211498800	Weak transcription	Thymus	Thymus
11	chr1:211487200-211499400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:211487200-211499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:211487200-211499600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:211487200-211499600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:211487200-211499600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:211487200-211499600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:211487200-211499600	Weak transcription	Gastric	stomach
18	chr1:211487200-211499600	Weak transcription	Left Ventricle	heart
19	chr1:211487200-211499600	Weak transcription	Lung	lung
20	chr1:211487200-211499600	Weak transcription	Pancreas	Pancrea
21	chr1:211487200-211499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:211487200-211499800	Weak transcription	Aorta	Aorta
23	chr1:211487200-211499800	Weak transcription	Esophagus	oesophagus
24	chr1:211487200-211499800	Weak transcription	Ovary	ovary
25	chr1:211487200-211499800	Weak transcription	Right Ventricle	heart
26	chr1:211487200-211500200	Weak transcription	Spleen	Spleen
27	chr1:211487400-211499600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:211487400-211499600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:211487400-211499600	Weak transcription	Brain Anterior Caudate	brain
30	chr1:211487400-211499600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:211487400-211499600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:211487400-211499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:211487400-211499800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:211487400-211499800	Weak transcription	HSMMtube	muscle
35	chr1:211487600-211499600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:211487600-211499600	Weak transcription	NHLF	lung
37	chr1:211488000-211499600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:211488000-211499600	Weak transcription	Brain Substantia Nigra	brain
39	chr1:211488200-211499000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:211488200-211499400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:211488200-211499600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:211488400-211499400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:211488600-211499600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:211488600-211499600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:211488600-211499600	Weak transcription	HUVEC	blood vessel
46	chr1:211488800-211498600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:211489200-211497000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:211489200-211498000	Weak transcription	Primary B cells from cord blood	blood
49	chr1:211489200-211498400	Weak transcription	Fetal Thymus	thymus
50	chr1:211489200-211498800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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