Variant report

Variant	rs9942067
Chromosome Location	chr3:99356149-99356150
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	POLR2A	chr3:99355815-99360014	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr3:99356040-99356190	BJ	skin:	n/a	n/a
3	CTCF	chr3:99356000-99356150	AG04450	lung:	n/a	n/a
4	POLR2A	chr3:99356140-99356911	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr3:99355631-99357863	U87	brain:	n/a	n/a
6	POLR2A	chr3:99355828-99358032	IMR90	lung:	n/a	n/a
7	SMC3	chr3:99355931-99356589	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:99355628-99358881	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr3:99356060-99356210	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr3:99356000-99356150	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr3:99356020-99356170	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr3:99356020-99356170	HFF	foreskin:	n/a	n/a
13	STAT3	chr3:99356100-99356672	MCF10A-Er-Src	breast:	n/a	chr3:99356261-99356273 chr3:99356236-99356243 chr3:99356249-99356261
14	MYC	chr3:99355943-99356195	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr3:99355970-99356573	MCF10A-Er-Src	breast:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356375-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
16	FOS	chr3:99355887-99356597	MCF10A-Er-Src	breast:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356375-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
17	FOSL2	chr3:99355978-99356674	SK-N-SH	brain:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
18	POLR2A	chr3:99356017-99357895	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr3:99356000-99356150	NHLF	lung:	n/a	n/a
20	CTCF	chr3:99356020-99356170	HCM	heart:	n/a	n/a
21	JUN	chr3:99356027-99356568	HUVEC	blood vessel:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
22	RAD21	chr3:99355848-99356742	IMR90	lung:	n/a	chr3:99356571-99356583 chr3:99356570-99356579 chr3:99356571-99356581
23	STAT3	chr3:99355986-99356684	MCF10A-Er-Src	breast:	n/a	chr3:99356261-99356273 chr3:99356236-99356243 chr3:99356249-99356261
24	CTCF	chr3:99356000-99356150	HBMEC	blood vessel:	n/a	n/a
25	POLR2A	chr3:99355570-99359960	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr3:99356148-99361614	ProgFib	skin:	n/a	n/a
27	E2F4	chr3:99355971-99356638	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr3:99356020-99356170	AG04450	lung:	n/a	n/a
29	CTCF	chr3:99356040-99356190	HUVEC	blood vessel:	n/a	n/a
30	JUND	chr3:99356055-99356660	SK-N-SH	brain:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
31	POLR2A	chr3:99355795-99356914	H1-neurons	neurons:	n/a	n/a
32	MYC	chr3:99355957-99356286	MCF10A-Er-Src	breast:	n/a	chr3:99356255-99356265
33	STAT3	chr3:99355969-99356547	MCF10A-Er-Src	breast:	n/a	chr3:99356261-99356273 chr3:99356236-99356243 chr3:99356249-99356261
34	STAT3	chr3:99356106-99356612	MCF10A-Er-Src	breast:	n/a	chr3:99356261-99356273 chr3:99356236-99356243 chr3:99356249-99356261
35	POLR2A	chr3:99355587-99364509	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr3:99356000-99356150	AG10803	skin:	n/a	n/a
37	POLR2A	chr3:99355926-99356712	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr3:99355814-99356803	U87	brain:	n/a	n/a
39	POLR2A	chr3:99355625-99357886	U87	brain:	n/a	n/a
40	POLR2A	chr3:99356087-99356840	U87	brain:	n/a	n/a
41	JUND	chr3:99355839-99356803	SK-N-SH	brain:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
42	JUND	chr3:99356037-99356648	Hela-S3	cervix:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
43	FOS	chr3:99355913-99356727	HUVEC	blood vessel:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356375-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
44	CTCF	chr3:99355878-99356243	IMR90	lung:	n/a	n/a
45	POLR2A	chr3:99355776-99359911	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:99355891-99356612	MCF10A-Er-Src	breast:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356375-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
47	FOS	chr3:99355925-99356582	MCF10A-Er-Src	breast:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356375-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
48	JUND	chr3:99355966-99356738	SK-N-SH	brain:	n/a	chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356376-99356386 chr3:99356377-99356386 chr3:99356376-99356386
49	CTCF	chr3:99356000-99356150	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr3:99356080-99356230	HMEC	breast:	n/a	n/a

Variant related genes	Relation type
COL8A1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12107500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12486836	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12487332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495115	0.84[AMR][1000 genomes]
rs12495263	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12496018	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16841583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17777228	0.92[CEU][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150246	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150248	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7624987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645927	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7653590	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9849369	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9942067	DCBLD2	cis	cerebellum	SCAN
rs9942067	COL8A1	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99354400-99362000	Active TSS	Aorta	Aorta
2	chr3:99355200-99357600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:99355400-99356200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr3:99355400-99356200	Flanking Active TSS	HUVEC	blood vessel
5	chr3:99355400-99357400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr3:99355600-99356200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:99355600-99356400	Bivalent Enhancer	Fetal Heart	heart
8	chr3:99355600-99356400	Bivalent Enhancer	Fetal Lung	lung
9	chr3:99355600-99356600	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr3:99355600-99357400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:99355600-99357400	Active TSS	Right Ventricle	heart
12	chr3:99355600-99357600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:99355600-99357600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:99355600-99357800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr3:99355600-99357800	Active TSS	Colon Smooth Muscle	Colon
16	chr3:99355600-99360600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:99355800-99356200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:99355800-99356200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr3:99355800-99356200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:99355800-99356200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr3:99355800-99356200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:99355800-99356200	Bivalent Enhancer	Fetal Brain Female	brain
23	chr3:99355800-99356200	Flanking Active TSS	Ovary	ovary
24	chr3:99355800-99356200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr3:99355800-99356400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:99355800-99356400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr3:99355800-99356400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr3:99355800-99356400	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr3:99355800-99356600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:99355800-99356600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr3:99355800-99356600	Active TSS	Esophagus	oesophagus
32	chr3:99355800-99356600	Enhancers	Lung	lung
33	chr3:99355800-99356800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:99355800-99356800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr3:99355800-99356800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:99355800-99357000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:99355800-99357200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:99355800-99357200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr3:99355800-99357400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
40	chr3:99355800-99357400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
41	chr3:99355800-99357600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr3:99355800-99357600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr3:99355800-99357800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:99355800-99357800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr3:99355800-99358200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:99355800-99358600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr3:99355800-99358800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:99355800-99359400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:99355800-99360000	Active TSS	Right Atrium	heart
50	chr3:99356000-99356200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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