Variant report

Variant	rs1275420
Chromosome Location	chr14:69620920-69620921
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	MAZ	chr14:69617734-69620933	IMR90	lung:	n/a	chr14:69618579-69618589 chr14:69620306-69620316
2	BACH1	chr14:69619825-69621001	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr14:69619089-69621028	HEK293-T-REx	kidney:	n/a	chr14:69620324-69620333 chr14:69619897-69619906 chr14:69619901-69619922
4	E2F6	chr14:69620014-69620930	H1-hESC	embryonic stem cell:	n/a	chr14:69620071-69620081 chr14:69620306-69620315
5	MXI1	chr14:69617058-69621123	SK-N-SH	brain:	n/a	n/a
6	SIN3A	chr14:69618012-69620983	H1-hESC	embryonic stem cell:	n/a	chr14:69619261-69619269 chr14:69620360-69620373 chr14:69620251-69620264
7	RFX5	chr14:69617651-69622258	SK-N-SH	brain:	n/a	chr14:69618529-69618544
8	SIN3AK20	chr14:69617924-69620968	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:69620840-69620990	HRE	kidney:	n/a	n/a
10	TCF12	chr14:69619516-69620966	A549	lung:	n/a	chr14:69620302-69620309
11	POLR2A	chr14:69618917-69621052	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr14:69620780-69620930	MCF-7	breast:	n/a	n/a
13	POLR2A	chr14:69619542-69620996	PBDE	blood:	n/a	n/a
14	CTCF	chr14:69620800-69620950	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69618202..69621032-chr14:69863576..69866501,3	MCF-7	breast:
2	chr14:69618542..69620239-chr14:69620857..69623470,2	MCF-7	breast:
3	chr14:69614281..69621283-chr14:69656459..69660724,14	MCF-7	breast:
4	chr14:69620237..69623204-chr14:69623601..69625436,2	MCF-7	breast:
5	chr14:69616829..69621784-chr14:69657152..69660113,5	K562	blood:
6	chr14:69600414..69601969-chr14:69620394..69622104,2	K562	blood:
7	chr14:69620207..69622979-chr14:69654185..69655880,2	K562	blood:
8	chr14:69608197..69610454-chr14:69620173..69622020,3	MCF-7	breast:
9	chr14:69618275..69624022-chr14:69655650..69660294,14	MCF-7	breast:
10	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:
11	chr14:69620081..69621700-chr14:69636572..69639368,2	MCF-7	breast:

Variant related genes	Relation type
DCAF5	TF binding region
ENSG00000081177	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000139990	Chromatin interaction
ENSG00000258957	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10133226	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10133341	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134554	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10139153	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10139274	0.87[CEU][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10150493	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158794	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11158796	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1147468	1.00[ASN][1000 genomes]
rs1147478	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1147479	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11848820	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275405	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1275408	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1275409	0.88[EUR][1000 genomes]
rs1275410	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs1275411	0.88[CEU][hapmap];0.95[GIH][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs1275412	0.85[EUR][1000 genomes]
rs1275418	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12887465	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12888526	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1464307	0.80[CEU][hapmap]
rs1710988	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836065	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs17836099	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs1890942	1.00[ASN][1000 genomes]
rs1890943	0.81[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs1890944	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1959759	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1965449	0.81[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2014607	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs2090711	0.80[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090712	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096023	0.89[ASW][hapmap];0.88[CEU][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102923	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2102924	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153531	1.00[ASN][1000 genomes]
rs2185490	1.00[ASN][1000 genomes]
rs2331953	0.88[CEU][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331955	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2331957	1.00[ASN][1000 genomes]
rs35632281	0.88[EUR][1000 genomes]
rs35686041	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742899	0.88[CEU][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4243633	0.88[CEU][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4326982	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899284	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4899289	0.91[CEU][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899292	0.81[CEU][hapmap]
rs4902699	0.88[CEU][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902702	0.81[CEU][hapmap]
rs4902703	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902704	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4902708	1.00[ASN][1000 genomes]
rs4902712	1.00[ASN][1000 genomes]
rs61980269	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61981647	0.88[EUR][1000 genomes]
rs61981648	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981649	0.88[EUR][1000 genomes]
rs6573875	0.88[CEU][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573876	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573877	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71102629	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7148953	0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150127	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7150195	1.00[ASN][1000 genomes]
rs7151090	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7151331	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7151827	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7157772	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158145	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159186	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004722	1.00[ASN][1000 genomes]
rs8007859	0.88[CEU][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8008401	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008878	1.00[ASN][1000 genomes]
rs8016075	1.00[ASN][1000 genomes]
rs8017744	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs897325	1.00[ASN][1000 genomes]
rs897327	1.00[ASN][1000 genomes]
rs897328	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362083	chr14:69618574-69620972	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1275420	RAD51L1	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69616400-69621600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:69617600-69621000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:69617600-69621000	Active TSS	Right Atrium	heart
4	chr14:69617600-69621200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:69617800-69621000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr14:69617800-69621000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:69618000-69621000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:69618000-69621000	Active TSS	Colon Smooth Muscle	Colon
9	chr14:69618000-69621000	Active TSS	Psoas Muscle	Psoas
10	chr14:69618200-69621000	Active TSS	Colonic Mucosa	Colon
11	chr14:69618200-69621000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr14:69618200-69621000	Active TSS	Stomach Mucosa	stomach
13	chr14:69620000-69621000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:69620000-69621000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:69620200-69621000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr14:69620200-69621000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:69620200-69621000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:69620400-69621000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:69620400-69621000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr14:69620400-69621000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:69620400-69621000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr14:69620400-69621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr14:69620400-69621000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr14:69620400-69621000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:69620400-69621000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr14:69620400-69621000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr14:69620400-69621000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr14:69620400-69621000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
29	chr14:69620400-69621000	Flanking Active TSS	HMEC	breast
30	chr14:69620400-69621000	Flanking Active TSS	HSMM	muscle
31	chr14:69620400-69621000	Flanking Active TSS	HUVEC	blood vessel
32	chr14:69620400-69621000	Flanking Active TSS	K562	blood
33	chr14:69620400-69621000	Flanking Active TSS	Osteobl	bone
34	chr14:69620400-69621200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:69620400-69621200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:69620600-69621000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr14:69620600-69621000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:69620600-69621000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:69620600-69621000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr14:69620600-69621000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:69620600-69621000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr14:69620600-69621000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr14:69620600-69621000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:69620600-69621000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:69620600-69621000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr14:69620600-69621000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr14:69620600-69621000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr14:69620600-69621000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:69620600-69621000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr14:69620600-69621000	Flanking Active TSS	Liver	Liver

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