Variant report

Variant	rs10075150
Chromosome Location	chr5:36242354-36242355
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	ELK1	chr5:36241865-36242690	Hela-S3	cervix:	n/a	n/a
2	HDAC2	chr5:36240893-36242672	MCF-7	breast:	n/a	n/a
3	HCFC1	chr5:36239863-36243624	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:36241629-36242629	HCT-116	colon:	n/a	n/a
5	BHLHE40	chr5:36241843-36242638	HepG2	liver:	n/a	chr5:36242305-36242321
6	TAF1	chr5:36242234-36242554	GM12878	blood:	n/a	n/a
7	MYC	chr5:36241722-36242691	MCF-7	breast:	n/a	chr5:36242510-36242519 chr5:36242509-36242520 chr5:36242040-36242049 chr5:36242510-36242520 chr5:36242509-36242519 chr5:36242506-36242521 chr5:36242511-36242518 chr5:36242510-36242520 chr5:36242509-36242520 chr5:36242508-36242521 chr5:36242510-36242520 chr5:36242510-36242519 chr5:36242509-36242518
8	CTCF	chr5:36242065-36242387	GM10248	blood:	n/a	chr5:36242152-36242165
9	SIN3AK20	chr5:36240739-36242839	MCF-7	breast:	n/a	n/a
10	USF1	chr5:36242201-36242631	K562	blood:	n/a	chr5:36242305-36242321 chr5:36242508-36242519
11	POLR2A	chr5:36241077-36242751	MCF-7	breast:	n/a	n/a
12	MAZ	chr5:36240902-36243177	Hela-S3	cervix:	n/a	chr5:36242510-36242519 chr5:36241253-36241263 chr5:36242509-36242520 chr5:36242040-36242049 chr5:36242510-36242520 chr5:36242918-36242929 chr5:36242509-36242519 chr5:36242506-36242521 chr5:36242511-36242518 chr5:36242510-36242520 chr5:36242509-36242520 chr5:36242508-36242521 chr5:36242510-36242519 chr5:36242509-36242518 chr5:36241340-36241350
13	BRCA1	chr5:36242345-36242535	HepG2	liver:	n/a	n/a
14	GABPA	chr5:36241821-36242680	K562	blood:	n/a	chr5:36242131-36242140
15	MAFK	chr5:36241936-36242599	Hela-S3	cervix:	n/a	n/a
16	REST	chr5:36241851-36242613	A549	lung:	n/a	chr5:36241972-36241985 chr5:36242422-36242435
17	USF1	chr5:36242327-36242668	SK-N-SH_RA	brain:	n/a	chr5:36242508-36242519
18	NFYA	chr5:36242110-36242462	GM12878	blood:	n/a	chr5:36242290-36242302 chr5:36242291-36242309 chr5:36242291-36242304 chr5:36242291-36242306 chr5:36242291-36242306 chr5:36242291-36242305
19	USF2	chr5:36242025-36242663	HepG2	liver:	n/a	chr5:36242305-36242321 chr5:36242508-36242519
20	MAX	chr5:36240831-36243080	K562	blood:	n/a	chr5:36242510-36242519 chr5:36241253-36241263 chr5:36242509-36242520 chr5:36242040-36242049 chr5:36242510-36242520 chr5:36242918-36242929 chr5:36242509-36242519 chr5:36242506-36242521 chr5:36242511-36242518 chr5:36242510-36242520 chr5:36242509-36242520 chr5:36242508-36242521 chr5:36242510-36242520 chr5:36242510-36242519 chr5:36242509-36242518 chr5:36241340-36241350
21	TCF12	chr5:36242254-36242599	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr5:36241852-36242664	ECC-1	luminal epithelium:	n/a	chr5:36242450-36242461 chr5:36242192-36242214 chr5:36241972-36241986 chr5:36241977-36241986 chr5:36242202-36242214 chr5:36242419-36242428 chr5:36242305-36242319
23	TCF12	chr5:36240917-36242719	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr5:36241705-36242400	GM10266	blood:	n/a	chr5:36242152-36242165
25	MXI1	chr5:36240685-36242673	Hela-S3	cervix:	n/a	chr5:36242511-36242520
26	CTCF	chr5:36241740-36242354	GM19239	blood:	n/a	chr5:36242152-36242165
27	POLR2A	chr5:36241009-36243239	HepG2	liver:	n/a	n/a
28	EGR1	chr5:36241938-36242466	K562	blood:	n/a	chr5:36242130-36242140
29	POLR2A	chr5:36240788-36243082	K562	blood:	n/a	n/a
30	POLR2A	chr5:36240945-36242715	H1-neurons	neurons:	n/a	n/a
31	ATF2	chr5:36242159-36242620	GM12878	blood:	n/a	n/a
32	PBX3	chr5:36242263-36242631	A549	lung:	n/a	chr5:36242294-36242303
33	CTCF	chr5:36241723-36242367	GM12891	blood:	n/a	chr5:36242152-36242165
34	TBP	chr5:36241976-36242594	Hela-S3	cervix:	n/a	n/a
35	PAX5	chr5:36241765-36242627	GM12878	blood:	n/a	n/a
36	CEBPD	chr5:36242049-36242495	HepG2	liver:	n/a	n/a
37	YY1	chr5:36240944-36242517	K562	blood:	n/a	chr5:36242450-36242461 chr5:36242192-36242214 chr5:36241259-36241268 chr5:36241256-36241265 chr5:36241531-36241545 chr5:36241972-36241986 chr5:36241309-36241320 chr5:36241977-36241986 chr5:36242202-36242214 chr5:36242419-36242428 chr5:36242305-36242319
38	SIN3AK20	chr5:36241824-36242839	MCF-7	breast:	n/a	n/a
39	E2F6	chr5:36240991-36243083	K562	blood:	n/a	chr5:36241977-36241986 chr5:36242131-36242143 chr5:36242454-36242465 chr5:36242293-36242302 chr5:36242453-36242465 chr5:36241999-36242014 chr5:36242425-36242435 chr5:36241257-36241267 chr5:36242419-36242428 chr5:36242267-36242279
40	TCF12	chr5:36242334-36242646	GM12878	blood:	n/a	n/a
41	CEBPB	chr5:36241808-36242643	A549	lung:	n/a	n/a
42	CTCF	chr5:36241429-36242462	IMR90	lung:	n/a	chr5:36241528-36241541 chr5:36242152-36242165
43	MYC	chr5:36240916-36242666	K562	blood:	n/a	chr5:36242510-36242519 chr5:36241253-36241263 chr5:36242509-36242520 chr5:36242040-36242049 chr5:36242510-36242520 chr5:36242509-36242519 chr5:36242506-36242521 chr5:36242511-36242518 chr5:36242510-36242520 chr5:36242509-36242520 chr5:36242508-36242521 chr5:36242510-36242520 chr5:36242510-36242519 chr5:36242509-36242518 chr5:36241340-36241350
44	IRF1	chr5:36241877-36242583	K562	blood:	n/a	chr5:36242337-36242346 chr5:36242293-36242302
45	CTCF	chr5:36241815-36242377	Spleen_OC	spleen:	n/a	chr5:36242152-36242165
46	JUN	chr5:36239412-36243190	K562	blood:	n/a	chr5:36242295-36242304 chr5:36242671-36242680 chr5:36239492-36239501 chr5:36242656-36242665
47	STAT3	chr5:36242201-36242581	MCF10A-Er-Src	breast:	n/a	chr5:36242565-36242577
48	MXI1	chr5:36242058-36242604	H1-hESC	embryonic stem cell:	n/a	chr5:36242511-36242520
49	SMARCB1	chr5:36240887-36243284	Hela-S3	cervix:	n/a	n/a
50	POU2F2	chr5:36241816-36242629	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36242335-36242385	HCPEpiC	choroid plexus:	n/a
2	chr5:36242335-36242385	AG09319	gingival:	n/a
3	chr5:36242335-36242385	HRPEpiC	eye:	n/a
4	chr5:36242335-36242385	SAEC	small airway:	n/a
5	chr5:36242335-36242385	HRE	kidney:	n/a
6	chr5:36242335-36242385	HAEpiC	amniotic membrane:	n/a
7	chr5:36242335-36242385	HUVEC	blood vessel:	n/a
8	chr5:36242335-36242385	K562	blood:	n/a
9	chr5:36242335-36242385	ovcar-3	ovarian:	n/a
10	chr5:36242335-36242385	H1-hESC	embryonic stem cell:	embryo
11	chr5:36242335-36242385	CMK	blood:	n/a
12	chr5:36242335-36242385	A549	lung:	n/a
13	chr5:36242335-36242385	AG10803	skin:	n/a
14	chr5:36242335-36242385	HCM	heart:	n/a
15	chr5:36242335-36242385	GM12891	blood:	n/a
16	chr5:36242335-36242385	SK-N-SH_RA	brain:	n/a
17	chr5:36242335-36242385	GM19239	blood:	n/a
18	chr5:36242335-36242385	HCF	heart:	n/a
19	chr5:36242335-36242385	SK-N-MC	brain:	n/a
20	chr5:36242335-36242385	HL-60	blood:	n/a
21	chr5:36242335-36242385	AG04450	lung:	fetal
22	chr5:36242335-36242385	SK-N-SH	brain:	n/a
23	chr5:36242335-36242385	RPTEC	kidney:	n/a
24	chr5:36242335-36242385	Hepatocyte	liver:	n/a
25	chr5:36242335-36242385	LNCaP	prostate:	n/a
26	chr5:36242335-36242385	HPAEpiC	pulmonary alveolar:	n/a
27	chr5:36242335-36242385	Caco-2	colon:	n/a
28	chr5:36242335-36242385	BJ	skin:	n/a
29	chr5:36242335-36242385	ECC-1	luminal epithelium:	n/a
30	chr5:36242335-36242385	Jurkat	blood:	n/a
31	chr5:36242335-36242385	HIPEpiC	eye:	n/a
32	chr5:36242335-36242385	GM12892	blood:	n/a
33	chr5:36242335-36242385	AG09309	skin:	n/a
34	chr5:36242335-36242385	Hela-S3	cervix:	n/a
35	chr5:36242335-36242385	HEEpiC	esophagus:	n/a
36	chr5:36242335-36242385	NHDF-neo	bronchial:	n/a
37	chr5:36242335-36242385	HEK293	kidney:	embryo
38	chr5:36242335-36242385	HNPCEpiC	eye:	n/a
39	chr5:36242335-36242385	MCF-7	breast:	n/a
40	chr5:36242335-36242385	HCT-116	colon:	n/a
41	chr5:36242335-36242385	PFSK-1	brain:	n/a
42	chr5:36242335-36242385	ProgFib	skin:	n/a
43	chr5:36242335-36242385	AoSMC	blood vessel:	n/a
44	chr5:36242335-36242385	U87	brain:	n/a
45	chr5:36242335-36242385	NB4	blood:	n/a
46	chr5:36242335-36242385	NT2-D1	testis:	n/a
47	chr5:36242335-36242385	SKMC	muscle:	n/a
48	chr5:36242335-36242385	T-47D	breast:	n/a
49	chr5:36242335-36242385	IMR90	lung:	fetal
50	chr5:36242335-36242385	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:129939337..129940255-chr5:36241535..36242514,2	NB4	blood:
2	chr5:36220213..36223106-chr5:36238566..36243203,4	K562	blood:
3	chr19:8385864..8386458-chr5:36241908..36242600,2	Hela-S3	cervix:
4	chr5:36217513..36219100-chr5:36239922..36242723,2	MCF-7	breast:
5	chr16:67062423..67063330-chr5:36242081..36242866,2	Hela-S3	cervix:
6	chr5:36241537..36242362-chr6:32939583..32940246,2	Hela-S3	cervix:
7	chr1:45265655..45266334-chr5:36242016..36242588,2	Hela-S3	cervix:
8	chr16:56965897..56966608-chr5:36241516..36242437,2	Hela-S3	cervix:
9	chr11:27527933..27528688-chr5:36241915..36242891,2	Hela-S3	cervix:
10	chr5:36205557..36207840-chr5:36241465..36243259,2	MCF-7	breast:
11	chr19:11266053..11266564-chr5:36241763..36242414,2	Hela-S3	cervix:
12	chr5:36150463..36155255-chr5:36239958..36244873,10	K562	blood:
13	chr14:20811503..20812195-chr5:36241942..36242442,2	HCT-116	colon:
14	chr5:36150467..36154483-chr5:36238242..36244873,13	K562	blood:
15	chr15:65588160..65588836-chr5:36241829..36242446,2	Hela-S3	cervix:
16	chr19:45927158..45928031-chr5:36241578..36242532,2	Hela-S3	cervix:
17	chr20:33865657..33866330-chr5:36242013..36242915,2	Hela-S3	cervix:
18	chr17:80055721..80056463-chr5:36241598..36242471,2	Hela-S3	cervix:
19	chr5:36241334..36243447-chr6:24720553..24722359,2	K562	blood:
20	chr5:36241760..36242699-chrX:153237112..153238099,2	Hela-S3	cervix:
21	chr12:7053207..7053942-chr5:36241584..36242527,2	Hela-S3	cervix:
22	chr5:36241954..36242472-chrX:129299493..129300346,2	Hela-S3	cervix:
23	chr5:36242235..36242899-chr7:112090445..112091144,2	HCT-116	colon:

Variant related genes	Relation type
NADK2	TF binding region
NADK2	CpG island
ENSG00000177854	Chromatin interaction
ENSG00000161888	Chromatin interaction
ENSG00000245711	Chromatin interaction
ENSG00000088298	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000084234	Chromatin interaction
ENSG00000051108	Chromatin interaction
ENSG00000145604	Chromatin interaction
ENSG00000245573	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000126005	Chromatin interaction
ENSG00000148943	Chromatin interaction
ENSG00000012061	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000169710	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000164187	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000201223	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000156709	Chromatin interaction
ENSG00000067955	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000204256	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7719686	0.86[CHD][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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10075150	OSMR	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36239800-36242600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:36239800-36242800	Active TSS	NHLF	lung
3	chr5:36240000-36242800	Active TSS	Ovary	ovary
4	chr5:36240000-36242800	Active TSS	Right Atrium	heart
5	chr5:36240200-36242400	Active TSS	Fetal Muscle Leg	muscle
6	chr5:36240200-36242800	Active TSS	Aorta	Aorta
7	chr5:36240200-36242800	Active TSS	Psoas Muscle	Psoas
8	chr5:36240200-36243200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:36240400-36242400	Active TSS	Fetal Muscle Trunk	muscle
10	chr5:36240400-36242400	Active TSS	K562	blood
11	chr5:36240400-36242600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:36240400-36242600	Active TSS	Fetal Intestine Large	intestine
13	chr5:36240400-36242800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:36240400-36242800	Active TSS	Colon Smooth Muscle	Colon
15	chr5:36240400-36242800	Active TSS	Right Ventricle	heart
16	chr5:36240400-36243000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr5:36240400-36243200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:36240600-36242400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:36240600-36242600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:36240600-36242600	Active TSS	HepG2	liver
21	chr5:36240600-36242600	Active TSS	NHDF-Ad	bronchial
22	chr5:36240600-36242800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:36240600-36242800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:36240600-36242800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:36240600-36242800	Active TSS	Brain Substantia Nigra	brain
26	chr5:36240600-36242800	Active TSS	Fetal Brain Female	brain
27	chr5:36240600-36242800	Active TSS	Fetal Kidney	kidney
28	chr5:36240600-36242800	Active TSS	Left Ventricle	heart
29	chr5:36240600-36243200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:36240600-36243200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:36240600-36243200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:36240600-36243200	Active TSS	Small Intestine	intestine
33	chr5:36240800-36242400	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:36240800-36242400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:36240800-36242400	Active TSS	Fetal Stomach	stomach
36	chr5:36240800-36242400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr5:36240800-36242600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:36240800-36242600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:36240800-36242600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:36240800-36242600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr5:36240800-36242600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:36240800-36242600	Active TSS	Stomach Smooth Muscle	stomach
43	chr5:36240800-36242600	Active TSS	HSMMtube	muscle
44	chr5:36240800-36242800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr5:36240800-36242800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr5:36240800-36242800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:36240800-36242800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:36240800-36242800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:36240800-36242800	Active TSS	Liver	Liver
50	chr5:36240800-36242800	Active TSS	Brain Anterior Caudate	brain

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