Variant report

Variant	rs10015121
Chromosome Location	chr4:87813821-87813822
allele	C/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	POLR2A	chr4:87812802-87813956	MCF-7	breast:	n/a	n/a
2	YY1	chr4:87813353-87813986	H1-hESC	embryonic stem cell:	n/a	chr4:87813412-87813426 chr4:87813493-87813512 chr4:87813492-87813512 chr4:87813505-87813519 chr4:87813697-87813711 chr4:87813409-87813423 chr4:87813625-87813636
3	MAX	chr4:87812832-87814138	SK-N-SH	brain:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
4	NFIC	chr4:87812795-87814149	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr4:87812832-87813876	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr4:87812794-87813958	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr4:87812931-87813934	Hela-S3	cervix:	n/a	n/a
8	NFIC	chr4:87813365-87813972	SK-N-SH	brain:	n/a	n/a
9	MAX	chr4:87812702-87814495	A549	lung:	n/a	chr4:87814264-87814273 chr4:87813496-87813506 chr4:87813498-87813507
10	MAX	chr4:87812826-87814057	H1-hESC	embryonic stem cell:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
11	YY1	chr4:87813347-87813939	GM12891	blood:	n/a	chr4:87813412-87813426 chr4:87813493-87813512 chr4:87813492-87813512 chr4:87813505-87813519 chr4:87813697-87813711 chr4:87813409-87813423 chr4:87813625-87813636
12	MAX	chr4:87812810-87814072	MCF-7	breast:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
13	POLR2A	chr4:87812787-87814034	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr4:87813439-87814012	SK-N-SH_RA	brain:	n/a	chr4:87813493-87813512 chr4:87813492-87813512 chr4:87813505-87813519 chr4:87813697-87813711 chr4:87813625-87813636
15	POLR2A	chr4:87812775-87814378	SK-N-MC	brain:	n/a	n/a
16	YY1	chr4:87813532-87814036	SK-N-SH	brain:	n/a	chr4:87813697-87813711 chr4:87813625-87813636
17	POLR2A	chr4:87812759-87814050	MCF-7	breast:	n/a	n/a
18	YY1	chr4:87813751-87813915	K562	blood:	n/a	n/a
19	MAX	chr4:87812863-87813932	MCF-7	breast:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
20	REST	chr4:87812960-87814304	H1-neurons	neurons:	n/a	chr4:87813462-87813476
21	POLR2A	chr4:87813162-87814008	H1-neurons	neurons:	n/a	n/a
22	HA-E2F1	chr4:87813091-87813859	Hela-S3	cervix:	n/a	chr4:87813412-87813422 chr4:87813413-87813423
23	POLR2A	chr4:87812750-87813876	ECC-1	luminal epithelium:	n/a	n/a
24	USF1	chr4:87813251-87813996	ECC-1	luminal epithelium:	n/a	n/a
25	ELF1	chr4:87812950-87813949	GM12878	blood:	n/a	n/a
26	TAF1	chr4:87813153-87813857	A549	lung:	n/a	n/a
27	TAF1	chr4:87812837-87813966	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:87812862-87813991	ECC-1	luminal epithelium:	n/a	n/a
29	YY1	chr4:87812857-87814001	ECC-1	luminal epithelium:	n/a	chr4:87813412-87813426 chr4:87813493-87813512 chr4:87813492-87813512 chr4:87813025-87813036 chr4:87813505-87813519 chr4:87813697-87813711 chr4:87813409-87813423 chr4:87813625-87813636
30	MAX	chr4:87812958-87814078	K562	blood:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
31	TAF1	chr4:87812828-87813937	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr4:87813561-87814163	SK-N-SH_RA	brain:	n/a	chr4:87813697-87813711 chr4:87813625-87813636
33	TAF1	chr4:87813497-87813948	SK-N-SH	brain:	n/a	n/a
34	YY1	chr4:87813334-87813953	GM12878	blood:	n/a	chr4:87813412-87813426 chr4:87813493-87813512 chr4:87813492-87813512 chr4:87813505-87813519 chr4:87813697-87813711 chr4:87813409-87813423 chr4:87813625-87813636
35	SIN3AK20	chr4:87812723-87814022	MCF-7	breast:	n/a	n/a
36	E2F6	chr4:87812801-87814131	H1-hESC	embryonic stem cell:	n/a	chr4:87813546-87813557 chr4:87813032-87813039 chr4:87813412-87813422 chr4:87813413-87813423
37	POLR2A	chr4:87812838-87813849	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr4:87812857-87814045	H1-hESC	embryonic stem cell:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
39	POLR2A	chr4:87811908-87814514	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr4:87812846-87814160	ECC-1	luminal epithelium:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
41	MAX	chr4:87813332-87814104	SK-N-SH	brain:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
42	CTCF	chr4:87813820-87813970	HPF	lung:	n/a	n/a
43	ZNF143	chr4:87813443-87813916	H1-hESC	embryonic stem cell:	n/a	chr4:87813697-87813707
44	E2F6	chr4:87812848-87814066	A549	lung:	n/a	chr4:87813546-87813557 chr4:87813032-87813039 chr4:87813412-87813422 chr4:87813413-87813423
45	MYC	chr4:87812707-87813975	MCF10A-Er-Src	breast:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
46	TCF12	chr4:87812908-87814065	ECC-1	luminal epithelium:	n/a	chr4:87813332-87813339 chr4:87813361-87813369
47	NFIC	chr4:87812843-87814138	SK-N-SH	brain:	n/a	n/a
48	NFIC	chr4:87812746-87814060	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr4:87812927-87814090	HepG2	liver:	n/a	chr4:87813496-87813506 chr4:87813498-87813507
50	E2F6	chr4:87813022-87813821	K562	blood:	n/a	chr4:87813546-87813557 chr4:87813032-87813039 chr4:87813412-87813422 chr4:87813413-87813423

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:87813803-87813853	IMR90	lung:	fetal
2	chr4:87813773-87813823	HAEpiC	amniotic membrane:	n/a
3	chr4:87813803-87813853	SK-N-SH_RA	brain:	n/a
4	chr4:87813803-87813853	Hepatocyte	liver:	n/a
5	chr4:87813773-87813823	HMEC	breast:	n/a
6	chr4:87813773-87813823	BE2_C	brain:	n/a
7	chr4:87813773-87813823	HRE	kidney:	n/a
8	chr4:87813803-87813853	AG09319	gingival:	n/a
9	chr4:87813803-87813853	HUVEC	blood vessel:	n/a
10	chr4:87813803-87813853	GM12892	blood:	n/a
11	chr4:87813803-87813853	K562	blood:	n/a
12	chr4:87813773-87813823	AoSMC	blood vessel:	n/a
13	chr4:87813773-87813823	BJ	skin:	n/a
14	chr4:87813803-87813853	T-47D	breast:	n/a
15	chr4:87813773-87813823	AG04449	skin:	fetal
16	chr4:87813803-87813853	Hela-S3	cervix:	n/a
17	chr4:87813773-87813823	HRPEpiC	eye:	n/a
18	chr4:87813803-87813853	SK-N-SH	brain:	n/a
19	chr4:87813773-87813823	GM19239	blood:	n/a
20	chr4:87813803-87813853	HIPEpiC	eye:	n/a
21	chr4:87813803-87813853	HRCEpiC	kidney:	n/a
22	chr4:87813773-87813823	HepG2	liver:	n/a
23	chr4:87813803-87813853	PFSK-1	brain:	n/a
24	chr4:87813773-87813823	ProgFib	skin:	n/a
25	chr4:87813803-87813853	HMEC	breast:	n/a
26	chr4:87813773-87813823	AG04450	lung:	fetal
27	chr4:87813773-87813823	GM12892	blood:	n/a
28	chr4:87813803-87813853	NHDF-neo	bronchial:	n/a
29	chr4:87813773-87813823	Jurkat	blood:	n/a
30	chr4:87813803-87813853	MCF10A-Er-Src	breast:	n/a
31	chr4:87813773-87813823	CMK	blood:	n/a
32	chr4:87813803-87813853	BE2_C	brain:	n/a
33	chr4:87813773-87813823	HRCEpiC	kidney:	n/a
34	chr4:87813773-87813823	SK-N-MC	brain:	n/a
35	chr4:87813803-87813853	HEEpiC	esophagus:	n/a
36	chr4:87813803-87813853	AG09309	skin:	n/a
37	chr4:87813803-87813853	SKMC	muscle:	n/a
38	chr4:87813803-87813853	HepG2	liver:	n/a
39	chr4:87813773-87813823	RPTEC	kidney:	n/a
40	chr4:87813803-87813853	ProgFib	skin:	n/a
41	chr4:87813773-87813823	PANC-1	pancreas:	n/a
42	chr4:87813773-87813823	AG09309	skin:	n/a
43	chr4:87813803-87813853	HEK293	kidney:	embryo
44	chr4:87813773-87813823	HNPCEpiC	eye:	n/a
45	chr4:87813773-87813823	Caco-2	colon:	n/a
46	chr4:87813803-87813853	GM06990	blood:	n/a
47	chr4:87813773-87813823	Hela-S3	cervix:	n/a
48	chr4:87813803-87813853	ovcar-3	ovarian:	n/a
49	chr4:87813773-87813823	SKMC	muscle:	n/a
50	chr4:87813803-87813853	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87515391..87517685-chr4:87812251..87815383,4	MCF-7	breast:
2	chr4:87514124..87517809-chr4:87811943..87814768,5	MCF-7	breast:
3	chr12:6832818..6833441-chr4:87812969..87813889,2	HCT-116	colon:

Variant related genes	Relation type
C4orf36	TF binding region
C4orf36	CpG island
ENSG00000109339	Chromatin interaction
ENSG00000111652	Chromatin interaction
ENSG00000163629	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10011798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015477	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10015508	0.86[YRI][hapmap]
rs10021020	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10021790	0.85[ASN][1000 genomes]
rs10034336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1010902	0.97[ASN][1000 genomes]
rs1010903	0.97[ASN][1000 genomes]
rs11097123	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11097125	1.00[EUR][1000 genomes]
rs12503045	1.00[EUR][1000 genomes]
rs12507165	1.00[EUR][1000 genomes]
rs12641570	1.00[EUR][1000 genomes]
rs13115795	0.96[ASN][1000 genomes]
rs13120981	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13137483	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1374935	0.98[EUR][1000 genomes]
rs17012132	0.86[ASN][1000 genomes]
rs17751557	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs1868244	0.96[CEU][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs1985944	0.97[ASN][1000 genomes]
rs2121871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2594274	0.98[EUR][1000 genomes]
rs2594283	0.94[EUR][1000 genomes]
rs2705629	0.99[EUR][1000 genomes]
rs28446826	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28641910	1.00[ASN][1000 genomes]
rs28650493	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28716151	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2904148	0.94[EUR][1000 genomes]
rs2904150	0.98[EUR][1000 genomes]
rs35428486	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4235082	0.99[EUR][1000 genomes]
rs4693154	0.90[JPT][hapmap]
rs55698195	0.88[ASN][1000 genomes]
rs55889191	0.95[EUR][1000 genomes]
rs56062410	0.91[EUR][1000 genomes]
rs56201068	0.92[ASN][1000 genomes]
rs67758970	1.00[EUR][1000 genomes]
rs6823051	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6843070	0.96[CEU][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs6846822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667703	0.97[ASN][1000 genomes]
rs72667705	0.96[ASN][1000 genomes]
rs727143	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87812000-87814400	Active TSS	Esophagus	oesophagus
2	chr4:87812200-87814000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr4:87812400-87814000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:87812600-87814000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:87812600-87814000	Active TSS	Brain Hippocampus Middle	brain
6	chr4:87812600-87814000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:87812600-87814000	Active TSS	Placenta Amnion	Placenta Amnion
8	chr4:87812600-87814200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr4:87812600-87814200	Active TSS	Brain Angular Gyrus	brain
10	chr4:87812600-87814200	Active TSS	Fetal Intestine Large	intestine
11	chr4:87812600-87814400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:87812600-87814400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:87812800-87814000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:87812800-87814000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr4:87812800-87814000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:87812800-87814000	Active TSS	Brain Substantia Nigra	brain
17	chr4:87812800-87814000	Active TSS	Colon Smooth Muscle	Colon
18	chr4:87812800-87814000	Active TSS	Ovary	ovary
19	chr4:87812800-87814000	Active TSS	Psoas Muscle	Psoas
20	chr4:87812800-87814000	Active TSS	Right Atrium	heart
21	chr4:87812800-87814000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr4:87812800-87814200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr4:87812800-87814200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:87812800-87814200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:87812800-87814200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:87812800-87814200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:87812800-87814200	Active TSS	Aorta	Aorta
28	chr4:87812800-87814200	Active TSS	Duodenum Mucosa	Duodenum
29	chr4:87812800-87814200	Active TSS	Right Ventricle	heart
30	chr4:87812800-87814400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:87813000-87814000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:87813000-87814000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:87813000-87814000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:87813000-87814000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr4:87813000-87814000	Active TSS	Fetal Brain Female	brain
36	chr4:87813000-87814000	Active TSS	Fetal Heart	heart
37	chr4:87813000-87814000	Active TSS	Lung	lung
38	chr4:87813000-87814000	Active TSS	A549	lung
39	chr4:87813000-87814000	Active TSS	HSMMtube	muscle
40	chr4:87813000-87814200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr4:87813000-87814200	Active TSS	Fetal Kidney	kidney
42	chr4:87813000-87814400	Flanking Active TSS	HMEC	breast
43	chr4:87813200-87814000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:87813200-87814000	Active TSS	Left Ventricle	heart
45	chr4:87813200-87814000	Active TSS	Osteobl	bone
46	chr4:87813200-87814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:87813200-87814200	Active TSS	Fetal Intestine Small	intestine
48	chr4:87813200-87814200	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr4:87813400-87814200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
50	chr4:87813400-87814200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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