Variant report

Variant	rs10214930
Chromosome Location	chr7:27784949-27784950
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	CTCF	chr7:27784840-27784990	AG04450	lung:	n/a	chr7:27784884-27784905
2	RAD21	chr7:27784624-27785140	HepG2	liver:	n/a	n/a
3	RAD21	chr7:27784589-27785107	Hela-S3	cervix:	n/a	chr7:27784596-27784608
4	CTCF	chr7:27784820-27784970	AG09309	skin:	n/a	chr7:27784884-27784905
5	SMC3	chr7:27784598-27785112	Hela-S3	cervix:	n/a	n/a
6	BHLHE40	chr7:27784612-27785113	HepG2	liver:	n/a	n/a
7	SMC3	chr7:27784708-27785092	HepG2	liver:	n/a	n/a
8	CTCF	chr7:27784800-27784950	HRPEpiC	eye:	n/a	chr7:27784884-27784905
9	CTCF	chr7:27784678-27785083	GM12878	blood:	n/a	chr7:27784884-27784905
10	CTCF	chr7:27784727-27785000	A549	lung:	n/a	chr7:27784884-27784905
11	CTCF	chr7:27784800-27784950	WERI-Rb-1	eye:	n/a	chr7:27784884-27784905
12	SIN3AK20	chr7:27784709-27785020	A549	lung:	n/a	n/a
13	CTCF	chr7:27784820-27784970	HBMEC	blood vessel:	n/a	chr7:27784884-27784905
14	RAD21	chr7:27784664-27785138	ECC-1	luminal epithelium:	n/a	n/a
15	POU2F2	chr7:27784681-27785066	GM12878	blood:	n/a	chr7:27784903-27784913 chr7:27784903-27784914 chr7:27784903-27784917
16	CTCF	chr7:27784783-27785013	NHEK	skin:	n/a	chr7:27784884-27784905
17	CTCF	chr7:27784840-27784990	HCM	heart:	n/a	chr7:27784884-27784905
18	MAFK	chr7:27784566-27785079	HepG2	liver:	n/a	n/a
19	SP1	chr7:27784555-27785191	A549	lung:	n/a	n/a
20	CTCF	chr7:27784800-27784950	GM12868	blood:	n/a	chr7:27784884-27784905
21	CTCF	chr7:27784442-27785107	K562	blood:	n/a	chr7:27784884-27784905
22	MYC	chr7:27784555-27785027	K562	blood:	n/a	n/a
23	CTCF	chr7:27784680-27785036	T-47D	breast:	n/a	chr7:27784884-27784905
24	CTCF	chr7:27784800-27784950	AG04450	lung:	n/a	chr7:27784884-27784905
25	MXI1	chr7:27784655-27785059	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:27784705-27785027	IMR90	lung:	n/a	n/a
27	RAD21	chr7:27784445-27785235	HCT-116	colon:	n/a	chr7:27784596-27784608
28	CTCF	chr7:27784820-27784970	NHEK	skin:	n/a	chr7:27784884-27784905
29	CUX1	chr7:27784595-27785053	K562	blood:	n/a	n/a
30	CTCF	chr7:27784800-27784950	AG10803	skin:	n/a	chr7:27784884-27784905
31	CTCF	chr7:27784840-27784990	GM12873	blood:	n/a	chr7:27784884-27784905
32	RAD21	chr7:27784690-27785001	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:27784820-27784970	GM12878	blood:	n/a	chr7:27784884-27784905
34	RAD21	chr7:27784675-27785075	HepG2	liver:	n/a	n/a
35	JUND	chr7:27784697-27785011	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr7:27784615-27785105	HCT-116	colon:	n/a	n/a
37	CTCF	chr7:27784767-27784985	Lung_OC	lung:	n/a	chr7:27784884-27784905
38	CTCF	chr7:27784800-27784950	HUVEC	blood vessel:	n/a	chr7:27784884-27784905
39	RAD21	chr7:27784588-27785170	A549	lung:	n/a	chr7:27784596-27784608
40	CTCF	chr7:27784720-27785109	A549	lung:	n/a	chr7:27784884-27784905
41	CTCF	chr7:27784806-27784969	GM10266	blood:	n/a	chr7:27784884-27784905
42	ARID3A	chr7:27784704-27785098	K562	blood:	n/a	n/a
43	CTCF	chr7:27784840-27784990	HepG2	liver:	n/a	chr7:27784884-27784905
44	CTCF	chr7:27784785-27785000	Fibrobl	skin:	n/a	chr7:27784884-27784905
45	SMC3	chr7:27784701-27785047	K562	blood:	n/a	n/a
46	CTCF	chr7:27784800-27784950	HBMEC	blood vessel:	n/a	chr7:27784884-27784905
47	CTCF	chr7:27784776-27785099	T-47D	breast:	n/a	chr7:27784884-27784905
48	ZNF143	chr7:27784646-27785032	H1-hESC	embryonic stem cell:	n/a	chr7:27784867-27784876
49	MAFF	chr7:27784720-27785094	K562	blood:	n/a	n/a
50	CTCF	chr7:27784552-27785080	IMR90	lung:	n/a	chr7:27784884-27784905

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27784932-27784982	AG04449	skin:	fetal
2	chr7:27784932-27784982	ProgFib	skin:	n/a
3	chr7:27784932-27784982	NT2-D1	testis:	n/a
4	chr7:27784932-27784982	Caco-2	colon:	n/a
5	chr7:27784932-27784982	HEK293	kidney:	embryo
6	chr7:27784932-27784982	IMR90	lung:	fetal
7	chr7:27784932-27784982	SK-N-SH_RA	brain:	n/a
8	chr7:27784932-27784982	HL-60	blood:	n/a
9	chr7:27784932-27784982	SK-N-SH	brain:	n/a
10	chr7:27784932-27784982	MCF10A-Er-Src	breast:	n/a
11	chr7:27784932-27784982	BJ	skin:	n/a
12	chr7:27784932-27784982	HEEpiC	esophagus:	n/a
13	chr7:27784932-27784982	CMK	blood:	n/a
14	chr7:27784932-27784982	Jurkat	blood:	n/a
15	chr7:27784932-27784982	AG09309	skin:	n/a
16	chr7:27784932-27784982	RPTEC	kidney:	n/a
17	chr7:27784932-27784982	HRE	kidney:	n/a
18	chr7:27784932-27784982	GM06990	blood:	n/a
19	chr7:27784932-27784982	GM12892	blood:	n/a
20	chr7:27784932-27784982	T-47D	breast:	n/a
21	chr7:27784932-27784982	NHBE	bronchial:	n/a
22	chr7:27784932-27784982	HRPEpiC	eye:	n/a
23	chr7:27784932-27784982	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:27784932-27784982	HNPCEpiC	eye:	n/a
25	chr7:27784932-27784982	NH-A	brain:	n/a
26	chr7:27784932-27784982	PFSK-1	brain:	n/a
27	chr7:27784932-27784982	HCT-116	colon:	n/a
28	chr7:27784932-27784982	SKMC	muscle:	n/a
29	chr7:27784932-27784982	NHDF-neo	bronchial:	n/a
30	chr7:27784932-27784982	MCF-7	breast:	n/a
31	chr7:27784932-27784982	SK-N-MC	brain:	n/a
32	chr7:27784932-27784982	GM12878	blood:	n/a
33	chr7:27784932-27784982	HIPEpiC	eye:	n/a
34	chr7:27784932-27784982	ECC-1	luminal epithelium:	n/a
35	chr7:27784932-27784982	HCM	heart:	n/a
36	chr7:27784932-27784982	GM12891	blood:	n/a
37	chr7:27784932-27784982	HepG2	liver:	n/a
38	chr7:27784932-27784982	Hela-S3	cervix:	n/a
39	chr7:27784932-27784982	U87	brain:	n/a
40	chr7:27784932-27784982	A549	lung:	n/a
41	chr7:27784932-27784982	HCF	heart:	n/a
42	chr7:27784932-27784982	AoSMC	blood vessel:	n/a
43	chr7:27784932-27784982	HAEpiC	amniotic membrane:	n/a
44	chr7:27784932-27784982	ovcar-3	ovarian:	n/a
45	chr7:27784932-27784982	Hepatocyte	liver:	n/a
46	chr7:27784932-27784982	BE2_C	brain:	n/a
47	chr7:27784932-27784982	PrEC	prostate:	n/a
48	chr7:27784932-27784982	HUVEC	blood vessel:	n/a
49	chr7:27784932-27784982	HRCEpiC	kidney:	n/a
50	chr7:27784932-27784982	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:27784788..27787305-chr7:27787434..27789144,2	K562	blood:
2	chr7:27784875..27785736-chr7:28059293..28060597,3	MCF-7	breast:
3	chr7:27784901..27786438-chr7:27809644..27811195,2	K562	blood:
4	chr7:27777088..27781357-chr7:27783261..27787943,9	MCF-7	breast:
5	chr7:27783237..27786573-chr7:27802443..27806955,4	K562	blood:
6	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
7	chr7:27783427..27786063-chr7:27789814..27792025,2	MCF-7	breast:
8	chr7:27784566..27786951-chr7:27787434..27790221,3	K562	blood:
9	chr7:27784235..27786861-chr7:27801505..27804201,3	K562	blood:
10	chr7:27784525..27785225-chr7:27814124..27815000,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229893	TF binding region
ENSG00000229893	CpG island
ENSG00000153814	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10230973	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241783	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10250333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764753	0.83[CEU][hapmap]
rs17155876	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859328	0.92[EUR][1000 genomes]
rs2057998	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074580	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237338	0.88[JPT][hapmap]
rs2391485	1.00[ASN][1000 genomes]
rs28521509	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42104	0.82[EUR][1000 genomes]
rs42113	0.81[EUR][1000 genomes]
rs4481475	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719906	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55837822	0.89[ASN][1000 genomes]
rs6462050	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6462051	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6948467	0.93[ASN][1000 genomes]
rs6970578	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7800116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7807738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs961724	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hypospadias	25108383	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10214930	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL
rs10214930	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:27780800-27789400	Weak transcription	Lung	lung
3	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27780800-27815200	Weak transcription	Gastric	stomach
7	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
10	chr7:27781200-27788000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:27781200-27788000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:27781200-27788400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:27781200-27788800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:27781200-27789000	Weak transcription	Fetal Thymus	thymus
15	chr7:27781200-27789400	Weak transcription	Thymus	Thymus
16	chr7:27781200-27789600	Weak transcription	Fetal Brain Female	brain
17	chr7:27781200-27790200	Weak transcription	Fetal Brain Male	brain
18	chr7:27781200-27791800	Weak transcription	Right Ventricle	heart
19	chr7:27781200-27792000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:27781400-27789400	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:27781400-27789600	Weak transcription	Esophagus	oesophagus
22	chr7:27781400-27799600	Weak transcription	Fetal Stomach	stomach
23	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:27782400-27788200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:27782400-27788200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:27782400-27788200	Weak transcription	Placenta	Placenta
28	chr7:27782800-27787200	Weak transcription	Small Intestine	intestine
29	chr7:27783200-27787800	Weak transcription	Primary B cells from cord blood	blood
30	chr7:27784000-27785800	Enhancers	HUVEC	blood vessel
31	chr7:27784000-27787800	Enhancers	Liver	Liver
32	chr7:27784200-27785000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:27784200-27785000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:27784200-27785000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:27784200-27785000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:27784200-27785000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr7:27784200-27785000	Enhancers	Fetal Intestine Large	intestine
38	chr7:27784200-27785000	Enhancers	Stomach Mucosa	stomach
39	chr7:27784200-27785000	Enhancers	Dnd41	blood
40	chr7:27784200-27785000	Enhancers	NHDF-Ad	bronchial
41	chr7:27784200-27785200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr7:27784200-27785200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:27784200-27785200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:27784200-27785200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:27784200-27785400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr7:27784200-27785600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:27784200-27786000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:27784200-27787600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:27784200-27788000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:27784400-27785000	Enhancers	Primary hematopoietic stem cells	blood

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