Variant report

Variant	rs1409128
Chromosome Location	chr10:27150093-27150094
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	CEBPD	chr10:27149543-27150173	K562	blood:	n/a	n/a
2	TCF12	chr10:27149820-27150182	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr10:27149361-27150397	MCF-7	breast:	n/a	chr10:27150170-27150180 chr10:27149955-27149965
4	CTCF	chr10:27148458-27150784	A549	lung:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
5	IRF1	chr10:27149588-27150519	K562	blood:	n/a	chr10:27150277-27150284 chr10:27150427-27150441 chr10:27150267-27150274
6	POLR2A	chr10:27148999-27150111	GM19193	blood:	n/a	n/a
7	POLR2A	chr10:27148782-27150163	U87	brain:	n/a	n/a
8	CTCF	chr10:27150067-27150347	MCF-7	breast:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
9	ZNF143	chr10:27149489-27150419	H1-hESC	embryonic stem cell:	n/a	chr10:27150058-27150076 chr10:27149645-27149655 chr10:27150067-27150076 chr10:27150065-27150074 chr10:27149598-27149616
10	MAX	chr10:27148941-27150387	K562	blood:	n/a	chr10:27150170-27150180 chr10:27149955-27149965 chr10:27149073-27149082
11	RCOR1	chr10:27149650-27150175	HepG2	liver:	n/a	n/a
12	RAD21	chr10:27150011-27150448	ECC-1	luminal epithelium:	n/a	chr10:27150215-27150234
13	SP4	chr10:27149851-27150395	H1-hESC	embryonic stem cell:	n/a	chr10:27150171-27150187
14	RELA	chr10:27149350-27150454	GM10847	blood:	n/a	n/a
15	POLR2A	chr10:27149438-27150144	A549	lung:	n/a	n/a
16	POLR2A	chr10:27149035-27150107	GM18951	blood:	n/a	n/a
17	ELF1	chr10:27149240-27150398	MCF-7	breast:	n/a	chr10:27149477-27149488 chr10:27149356-27149368
18	PML	chr10:27149580-27150136	GM12878	blood:	n/a	n/a
19	ZBTB33	chr10:27149692-27150247	HepG2	liver:	n/a	n/a
20	ELF1	chr10:27149105-27150294	GM12878	blood:	n/a	chr10:27149477-27149488 chr10:27149356-27149368
21	ZBTB33	chr10:27149717-27150220	K562	blood:	n/a	n/a
22	HNF4A	chr10:27149762-27150121	HepG2	liver:	n/a	n/a
23	TBL1XR1	chr10:27148546-27150318	GM12878	blood:	n/a	n/a
24	TCF7L2	chr10:27149724-27150167	PANC-1	pancreas:	n/a	n/a
25	ELF1	chr10:27149626-27150136	A549	lung:	n/a	n/a
26	SIX5	chr10:27149844-27150176	K562	blood:	n/a	chr10:27150065-27150074 chr10:27150067-27150076 chr10:27150064-27150078
27	ZBTB33	chr10:27149638-27150212	HepG2	liver:	n/a	n/a
28	EP300	chr10:27149734-27150139	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr10:27150016-27150438	H1-hESC	embryonic stem cell:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
30	STAT5A	chr10:27149658-27150151	K562	blood:	n/a	chr10:27150061-27150069
31	ZBTB33	chr10:27149679-27150155	HCT-116	colon:	n/a	n/a
32	CTCF	chr10:27150070-27150339	NHEK	skin:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
33	BCL3	chr10:27149338-27150108	GM12878	blood:	n/a	chr10:27149400-27149413 chr10:27149476-27149485 chr10:27149646-27149659 chr10:27149405-27149418
34	JUND	chr10:27149784-27150413	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr10:27148571-27150119	IMR90	lung:	n/a	n/a
36	BCLAF1	chr10:27149325-27150399	GM12878	blood:	n/a	chr10:27149400-27149413 chr10:27149476-27149485 chr10:27149646-27149659 chr10:27150190-27150199 chr10:27149405-27149418
37	RAD21	chr10:27150021-27150327	H1-hESC	embryonic stem cell:	n/a	chr10:27150215-27150234
38	POLR2A	chr10:27149061-27150188	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:27149995-27150426	H1-hESC	embryonic stem cell:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
40	REST	chr10:27149533-27150194	A549	lung:	n/a	chr10:27150020-27150033
41	MAX	chr10:27149607-27150328	SK-N-SH	brain:	n/a	chr10:27150170-27150180 chr10:27149955-27149965
42	GABPA	chr10:27149620-27150129	A549	lung:	n/a	chr10:27150104-27150115 chr10:27150104-27150118 chr10:27150104-27150113 chr10:27150106-27150115 chr10:27150101-27150115
43	NRF1	chr10:27149956-27150234	HepG2	liver:	n/a	chr10:27150104-27150115 chr10:27150104-27150118 chr10:27150104-27150113 chr10:27150106-27150115 chr10:27150104-27150115 chr10:27150101-27150115
44	ZNF143	chr10:27149380-27150382	Hela-S3	cervix:	n/a	chr10:27150058-27150076 chr10:27149645-27149655 chr10:27150067-27150076 chr10:27149390-27149400 chr10:27150065-27150074 chr10:27149598-27149616
45	RAD21	chr10:27149988-27150372	SK-N-SH_RA	brain:	n/a	chr10:27150215-27150234
46	MXI1	chr10:27149754-27150360	K562	blood:	n/a	n/a
47	CHD2	chr10:27149196-27150329	HepG2	liver:	n/a	n/a
48	YY1	chr10:27148962-27150337	GM12878	blood:	n/a	chr10:27149404-27149415 chr10:27149784-27149796 chr10:27149400-27149414 chr10:27149644-27149658 chr10:27149279-27149288 chr10:27149645-27149659 chr10:27149651-27149662
49	SP1	chr10:27149305-27150160	GM12878	blood:	n/a	chr10:27149602-27149611 chr10:27149600-27149612 chr10:27149949-27149963 chr10:27149600-27149612 chr10:27149959-27149973 chr10:27149601-27149610 chr10:27149897-27149910 chr10:27149601-27149610 chr10:27149931-27149945
50	PAX5	chr10:27149436-27150327	GM12878	blood:	n/a	chr10:27149476-27149485

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27150052-27150102	HRCEpiC	kidney:	n/a
2	chr10:27150052-27150102	LNCaP	prostate:	n/a
3	chr10:27150092-27150142	AG04449	skin:	fetal
4	chr10:27150052-27150102	AG09309	skin:	n/a
5	chr10:27150052-27150102	AG04450	lung:	fetal
6	chr10:27150092-27150142	Hepatocyte	liver:	n/a
7	chr10:27150092-27150142	MCF10A-Er-Src	breast:	n/a
8	chr10:27150092-27150142	HMEC	breast:	n/a
9	chr10:27150052-27150102	AoSMC	blood vessel:	n/a
10	chr10:27150092-27150142	SK-N-SH_RA	brain:	n/a
11	chr10:27150052-27150102	SK-N-SH	brain:	n/a
12	chr10:27150052-27150102	GM12891	blood:	n/a
13	chr10:27150092-27150142	PrEC	prostate:	n/a
14	chr10:27150052-27150102	PrEC	prostate:	n/a
15	chr10:27150092-27150142	IMR90	lung:	fetal
16	chr10:27150092-27150142	HNPCEpiC	eye:	n/a
17	chr10:27150052-27150102	HMEC	breast:	n/a
18	chr10:27150092-27150142	Jurkat	blood:	n/a
19	chr10:27150052-27150102	Caco-2	colon:	n/a
20	chr10:27150092-27150142	HCM	heart:	n/a
21	chr10:27150052-27150102	NHDF-neo	bronchial:	n/a
22	chr10:27150092-27150142	Caco-2	colon:	n/a
23	chr10:27150052-27150102	Hela-S3	cervix:	n/a
24	chr10:27150092-27150142	HAEpiC	amniotic membrane:	n/a
25	chr10:27150092-27150142	AG10803	skin:	n/a
26	chr10:27150092-27150142	H1-hESC	embryonic stem cell:	embryo
27	chr10:27150092-27150142	GM12891	blood:	n/a
28	chr10:27150092-27150142	GM19239	blood:	n/a
29	chr10:27150092-27150142	ECC-1	luminal epithelium:	n/a
30	chr10:27150052-27150102	AG10803	skin:	n/a
31	chr10:27150092-27150142	A549	lung:	n/a
32	chr10:27150092-27150142	HCPEpiC	choroid plexus:	n/a
33	chr10:27150052-27150102	PANC-1	pancreas:	n/a
34	chr10:27150052-27150102	HAEpiC	amniotic membrane:	n/a
35	chr10:27150052-27150102	MCF10A-Er-Src	breast:	n/a
36	chr10:27150092-27150142	BJ	skin:	n/a
37	chr10:27150052-27150102	ProgFib	skin:	n/a
38	chr10:27150052-27150102	BE2_C	brain:	n/a
39	chr10:27150052-27150102	HepG2	liver:	n/a
40	chr10:27150092-27150142	K562	blood:	n/a
41	chr10:27150092-27150142	HUVEC	blood vessel:	n/a
42	chr10:27150052-27150102	SAEC	small airway:	n/a
43	chr10:27150092-27150142	AoSMC	blood vessel:	n/a
44	chr10:27150092-27150142	HEK293	kidney:	embryo
45	chr10:27150052-27150102	CMK	blood:	n/a
46	chr10:27150092-27150142	HL-60	blood:	n/a
47	chr10:27150092-27150142	HCF	heart:	n/a
48	chr10:27150092-27150142	GM12892	blood:	n/a
49	chr10:27150092-27150142	RPTEC	kidney:	n/a
50	chr10:27150092-27150142	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:26986021..26987940-chr10:27149008..27151636,2	MCF-7	breast:
2	chr10:27149782..27150322-chr7:25164140..25164992,2	Hela-S3	cervix:
3	chr10:27150071..27150642-chr10:27170538..27171586,3	MCF-7	breast:
4	chr10:26985323..26988042-chr10:27148387..27150466,3	MCF-7	breast:
5	chr10:26985918..26987566-chr10:27148462..27151237,2	K562	blood:
6	chr10:27149519..27151430-chr10:27442633..27444807,2	K562	blood:

Variant related genes	Relation type
ABI1	TF binding region
ABI1	CpG island
ENSG00000172115	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000148459	Chromatin interaction
ENSG00000120539	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10741118	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10829104	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16927348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4581345	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7922118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9804398	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831812	chr10:27061506-27234267	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv971858	chr10:27066006-27157708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27146400-27150400	Active TSS	GM12878-XiMat	blood
2	chr10:27147000-27150400	Active TSS	Right Ventricle	heart
3	chr10:27147000-27150600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:27147000-27150800	Active TSS	Thymus	Thymus
5	chr10:27147200-27150400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:27147200-27150400	Active TSS	HSMMtube	muscle
7	chr10:27147200-27150400	Active TSS	NHLF	lung
8	chr10:27147400-27150400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:27147400-27150400	Active TSS	K562	blood
10	chr10:27147400-27150600	Active TSS	Psoas Muscle	Psoas
11	chr10:27147400-27150600	Active TSS	Right Atrium	heart
12	chr10:27147400-27150600	Active TSS	Stomach Smooth Muscle	stomach
13	chr10:27147400-27150600	Active TSS	A549	lung
14	chr10:27147400-27151000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:27147600-27150200	Active TSS	Primary T cells fromperipheralblood	blood
16	chr10:27147600-27150200	Active TSS	NHEK	skin
17	chr10:27147600-27150400	Active TSS	HMEC	breast
18	chr10:27147600-27150800	Active TSS	Brain Angular Gyrus	brain
19	chr10:27147800-27150400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:27147800-27150400	Active TSS	Fetal Brain Male	brain
21	chr10:27147800-27150400	Active TSS	NHDF-Ad	bronchial
22	chr10:27147800-27150600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:27147800-27150600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:27147800-27150600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr10:27147800-27150600	Active TSS	Colonic Mucosa	Colon
26	chr10:27147800-27150600	Active TSS	Fetal Lung	lung
27	chr10:27147800-27150600	Active TSS	Fetal Stomach	stomach
28	chr10:27148000-27150200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:27148000-27150200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr10:27148000-27150400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:27148000-27150400	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr10:27148000-27150400	Active TSS	Brain Cingulate Gyrus	brain
33	chr10:27148000-27150400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:27148000-27150400	Active TSS	Fetal Intestine Large	intestine
35	chr10:27148000-27150400	Active TSS	HepG2	liver
36	chr10:27148000-27150600	Active TSS	Rectal Smooth Muscle	rectum
37	chr10:27148000-27150600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr10:27148000-27150800	Active TSS	Duodenum Mucosa	Duodenum
39	chr10:27148200-27150200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr10:27148200-27150400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr10:27148200-27150400	Active TSS	Fetal Muscle Leg	muscle
42	chr10:27148200-27150400	Active TSS	HUVEC	blood vessel
43	chr10:27148200-27150600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:27148200-27150600	Active TSS	Aorta	Aorta
45	chr10:27148200-27150600	Active TSS	Fetal Intestine Small	intestine
46	chr10:27148200-27150600	Active TSS	Fetal Muscle Trunk	muscle
47	chr10:27148200-27150600	Active TSS	Placenta	Placenta
48	chr10:27148200-27150800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr10:27148400-27150200	Active TSS	Brain Anterior Caudate	brain
50	chr10:27148400-27150400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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