Variant report

Variant	rs1409127
Chromosome Location	chr10:27150237-27150238
allele	C/T
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	chr10:27150140-27150290	GM12873	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
2	CTCF	chr10:27150140-27150290	BJ	skin:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
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	CTCF	chr10:27150180-27150330	NB4	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
6	CTCF	chr10:27150180-27150330	GM12875	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
7	IRF1	chr10:27149588-27150519	K562	blood:	n/a	chr10:27150277-27150284 chr10:27150427-27150441 chr10:27150267-27150274
8	CTCF	chr10:27150067-27150347	MCF-7	breast:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
9	CTCF	chr10:27150160-27150310	Hela-S3	cervix:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
10	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
11	MAX	chr10:27148941-27150387	K562	blood:	n/a	chr10:27150170-27150180 chr10:27149955-27149965 chr10:27149073-27149082
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	RAD21	chr10:27150126-27150426	HepG2	liver:	n/a	chr10:27150215-27150234
16	ELF1	chr10:27149240-27150398	MCF-7	breast:	n/a	chr10:27149477-27149488 chr10:27149356-27149368
17	CTCF	chr10:27150100-27150250	GM12878	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
18	CTCF	chr10:27150120-27150270	HA-sp	spinal cord:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
19	CTCF	chr10:27150180-27150330	HPAF	blood vessel:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
20	ZBTB33	chr10:27149692-27150247	HepG2	liver:	n/a	n/a
21	ELF1	chr10:27149105-27150294	GM12878	blood:	n/a	chr10:27149477-27149488 chr10:27149356-27149368
22	CTCF	chr10:27150116-27150333	GM13976	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
23	CTCF	chr10:27150160-27150310	AG09319	gingival:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
24	TBL1XR1	chr10:27148546-27150318	GM12878	blood:	n/a	n/a
25	CTCF	chr10:27150140-27150290	AG09309	skin:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
26	CTCF	chr10:27150016-27150438	H1-hESC	embryonic stem cell:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
27	CTCF	chr10:27150160-27150310	HCT-116	colon:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
28	CTCF	chr10:27150070-27150339	NHEK	skin:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
29	CTCF	chr10:27150160-27150310	AG10803	skin:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
30	JUND	chr10:27149784-27150413	H1-hESC	embryonic stem cell:	n/a	n/a
31	SPI1	chr10:27150097-27150288	K562	blood:	n/a	chr10:27150172-27150185
32	BCLAF1	chr10:27149325-27150399	GM12878	blood:	n/a	chr10:27149400-27149413 chr10:27149476-27149485 chr10:27149646-27149659 chr10:27150190-27150199 chr10:27149405-27149418
33	RAD21	chr10:27150021-27150327	H1-hESC	embryonic stem cell:	n/a	chr10:27150215-27150234
34	CTCF	chr10:27149995-27150426	H1-hESC	embryonic stem cell:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
35	RAD21	chr10:27150114-27150291	HepG2	liver:	n/a	chr10:27150215-27150234
36	CTCF	chr10:27150152-27150335	GM20000	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
37	CTCF	chr10:27150160-27150310	GM12865	blood:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
38	MAX	chr10:27149607-27150328	SK-N-SH	brain:	n/a	chr10:27150170-27150180 chr10:27149955-27149965
39	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
40	RAD21	chr10:27149988-27150372	SK-N-SH_RA	brain:	n/a	chr10:27150215-27150234
41	MXI1	chr10:27149754-27150360	K562	blood:	n/a	n/a
42	CHD2	chr10:27149196-27150329	HepG2	liver:	n/a	n/a
43	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
44	PAX5	chr10:27149436-27150327	GM12878	blood:	n/a	chr10:27149476-27149485
45	CTCF	chr10:27150160-27150310	HBMEC	blood vessel:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
46	RAD21	chr10:27150032-27150363	H1-hESC	embryonic stem cell:	n/a	chr10:27150215-27150234
47	MYC	chr10:27149710-27150455	MCF10A-Er-Src	breast:	n/a	chr10:27150170-27150180 chr10:27149955-27149965
48	CTCF	chr10:27150160-27150310	HCPEpiC	choroid plexus:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
49	FOS	chr10:27149811-27150385	MCF10A-Er-Src	breast:	n/a	n/a
50	YY1	chr10:27149070-27150289	HepG2	liver:	n/a	chr10:27149404-27149415 chr10:27149784-27149796 chr10:27149400-27149414 chr10:27149644-27149658 chr10:27149279-27149288 chr10:27149645-27149659 chr10:27149651-27149662

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27150228-27150278	HRE	kidney:	n/a
2	chr10:27150228-27150278	AG10803	skin:	n/a
3	chr10:27150228-27150278	HCPEpiC	choroid plexus:	n/a
4	chr10:27150228-27150278	Hepatocyte	liver:	n/a
5	chr10:27150228-27150278	Hela-S3	cervix:	n/a
6	chr10:27150228-27150278	LNCaP	prostate:	n/a
7	chr10:27150228-27150278	NT2-D1	testis:	n/a
8	chr10:27150228-27150278	AG09319	gingival:	n/a
9	chr10:27150228-27150278	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:27150228-27150278	HCF	heart:	n/a
11	chr10:27150228-27150278	H1-hESC	embryonic stem cell:	embryo
12	chr10:27150228-27150278	HCM	heart:	n/a
13	chr10:27150228-27150278	U87	brain:	n/a
14	chr10:27150228-27150278	IMR90	lung:	fetal
15	chr10:27150228-27150278	SK-N-SH	brain:	n/a
16	chr10:27150228-27150278	ECC-1	luminal epithelium:	n/a
17	chr10:27150228-27150278	SAEC	small airway:	n/a
18	chr10:27150228-27150278	AG04449	skin:	fetal
19	chr10:27150228-27150278	ovcar-3	ovarian:	n/a
20	chr10:27150228-27150278	GM19239	blood:	n/a
21	chr10:27150228-27150278	HRCEpiC	kidney:	n/a
22	chr10:27150228-27150278	HEK293	kidney:	embryo
23	chr10:27150228-27150278	HNPCEpiC	eye:	n/a
24	chr10:27150228-27150278	MCF10A-Er-Src	breast:	n/a
25	chr10:27150228-27150278	MCF-7	breast:	n/a
26	chr10:27150228-27150278	BE2_C	brain:	n/a
27	chr10:27150228-27150278	HUVEC	blood vessel:	n/a
28	chr10:27150228-27150278	NHDF-neo	bronchial:	n/a
29	chr10:27150228-27150278	AG04450	lung:	fetal
30	chr10:27150228-27150278	PFSK-1	brain:	n/a
31	chr10:27150228-27150278	K562	blood:	n/a
32	chr10:27150228-27150278	SKMC	muscle:	n/a
33	chr10:27150228-27150278	A549	lung:	n/a
34	chr10:27150228-27150278	GM12878	blood:	n/a
35	chr10:27150228-27150278	T-47D	breast:	n/a
36	chr10:27150228-27150278	Caco-2	colon:	n/a
37	chr10:27150228-27150278	NH-A	brain:	n/a
38	chr10:27150228-27150278	NHBE	bronchial:	n/a
39	chr10:27150228-27150278	SK-N-SH_RA	brain:	n/a
40	chr10:27150228-27150278	PrEC	prostate:	n/a
41	chr10:27150228-27150278	AoSMC	blood vessel:	n/a
42	chr10:27150228-27150278	HCT-116	colon:	n/a
43	chr10:27150228-27150278	SK-N-MC	brain:	n/a
44	chr10:27150228-27150278	AG09309	skin:	n/a
45	chr10:27150228-27150278	BJ	skin:	n/a
46	chr10:27150228-27150278	NB4	blood:	n/a
47	chr10:27150228-27150278	PANC-1	pancreas:	n/a
48	chr10:27150228-27150278	HL-60	blood:	n/a
49	chr10:27150228-27150278	HMEC	breast:	n/a
50	chr10:27150228-27150278	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:27015169..27015701-chr10:27150108..27150645,2	K562	blood:
2	chr10:26986021..26987940-chr10:27149008..27151636,2	MCF-7	breast:
3	chr10:27149782..27150322-chr7:25164140..25164992,2	Hela-S3	cervix:
4	chr10:27150071..27150642-chr10:27170538..27171586,3	MCF-7	breast:
5	chr10:26985323..26988042-chr10:27148387..27150466,3	MCF-7	breast:
6	chr10:26985918..26987566-chr10:27148462..27151237,2	K562	blood:
7	chr10:27150190..27150757-chr10:27158129..27158952,2	MCF-7	breast:
8	chr10:27149519..27151430-chr10:27442633..27444807,2	K562	blood:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1046187	1.00[ASN][1000 genomes]
rs7086847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7092660	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7094289	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7099959	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7100699	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7904762	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7905878	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[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:103 , 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	chr10:27147600-27150400	Active TSS	HMEC	breast
16	chr10:27147600-27150800	Active TSS	Brain Angular Gyrus	brain
17	chr10:27147800-27150400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:27147800-27150400	Active TSS	Fetal Brain Male	brain
19	chr10:27147800-27150400	Active TSS	NHDF-Ad	bronchial
20	chr10:27147800-27150600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:27147800-27150600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:27147800-27150600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr10:27147800-27150600	Active TSS	Colonic Mucosa	Colon
24	chr10:27147800-27150600	Active TSS	Fetal Lung	lung
25	chr10:27147800-27150600	Active TSS	Fetal Stomach	stomach
26	chr10:27148000-27150400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:27148000-27150400	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr10:27148000-27150400	Active TSS	Brain Cingulate Gyrus	brain
29	chr10:27148000-27150400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:27148000-27150400	Active TSS	Fetal Intestine Large	intestine
31	chr10:27148000-27150400	Active TSS	HepG2	liver
32	chr10:27148000-27150600	Active TSS	Rectal Smooth Muscle	rectum
33	chr10:27148000-27150600	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr10:27148000-27150800	Active TSS	Duodenum Mucosa	Duodenum
35	chr10:27148200-27150400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr10:27148200-27150400	Active TSS	Fetal Muscle Leg	muscle
37	chr10:27148200-27150400	Active TSS	HUVEC	blood vessel
38	chr10:27148200-27150600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:27148200-27150600	Active TSS	Aorta	Aorta
40	chr10:27148200-27150600	Active TSS	Fetal Intestine Small	intestine
41	chr10:27148200-27150600	Active TSS	Fetal Muscle Trunk	muscle
42	chr10:27148200-27150600	Active TSS	Placenta	Placenta
43	chr10:27148200-27150800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr10:27148400-27150400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:27148400-27150400	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr10:27148400-27150400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:27148400-27150400	Active TSS	Fetal Kidney	kidney
48	chr10:27148400-27150400	Active TSS	Placenta Amnion	Placenta Amnion
49	chr10:27148400-27150400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:27148400-27150600	Active TSS	Brain Hippocampus Middle	brain

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