Variant report

Variant	rs34967120
Chromosome Location	chr22:29468721-29468722
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	NRF1	chr22:29468669-29469033	GM12878	blood:	n/a	n/a
2	PBX3	chr22:29468641-29468953	A549	lung:	n/a	chr22:29468858-29468867
3	MAX	chr22:29468637-29468883	HepG2	liver:	n/a	n/a
4	NR2F2	chr22:29468388-29468913	MCF-7	breast:	n/a	n/a
5	E2F4	chr22:29468585-29468958	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr22:29468659-29468851	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr22:29468433-29469126	HepG2	liver:	n/a	n/a
8	PAX5	chr22:29468629-29469060	GM12892	blood:	n/a	n/a
9	MAZ	chr22:29468509-29469091	K562	blood:	n/a	n/a
10	HDAC2	chr22:29468510-29468933	HepG2	liver:	n/a	n/a
11	SIN3A	chr22:29468690-29468799	GM12878	blood:	n/a	n/a
12	PBX3	chr22:29468569-29469040	SK-N-SH	brain:	n/a	chr22:29468858-29468867
13	BACH1	chr22:29468477-29468734	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr22:29468384-29468780	HEK293	kidney:	n/a	n/a
15	RCOR1	chr22:29468576-29468828	GM12878	blood:	n/a	n/a
16	SMC3	chr22:29468696-29468869	Hela-S3	cervix:	n/a	n/a
17	RFX5	chr22:29468704-29468914	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr22:29468622-29469228	K562	blood:	n/a	n/a
19	MYC	chr22:29468580-29468953	K562	blood:	n/a	n/a
20	MYC	chr22:29468653-29468950	K562	blood:	n/a	n/a
21	ZEB1	chr22:29468264-29469115	HepG2	liver:	n/a	chr22:29468767-29468774 chr22:29468824-29468831 chr22:29468765-29468774
22	NRF1	chr22:29468703-29468997	H1-hESC	embryonic stem cell:	n/a	n/a
23	BHLHE40	chr22:29468567-29468814	GM12878	blood:	n/a	n/a
24	RCOR1	chr22:29468552-29468958	K562	blood:	n/a	n/a
25	HMGN3	chr22:29468706-29469323	K562	blood:	n/a	n/a
26	MAX	chr22:29468594-29468896	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr22:29468573-29469071	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:29468700-29468874	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
30	NRF1	chr22:29468267-29469153	SK-N-SH	brain:	n/a	n/a
31	JUN	chr22:29468457-29468913	K562	blood:	n/a	n/a
32	TCF12	chr22:29468659-29468897	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr22:29468246-29469517	IMR90	lung:	n/a	chr22:29469230-29469240 chr22:29469294-29469304
34	MAX	chr22:29468473-29469032	K562	blood:	n/a	n/a
35	NANOG	chr22:29468557-29468943	H1-hESC	embryonic stem cell:	n/a	chr22:29468809-29468818
36	IRF1	chr22:29468496-29469014	K562	blood:	n/a	chr22:29468838-29468852 chr22:29468755-29468769 chr22:29468905-29468919
37	SP4	chr22:29468581-29469039	H1-hESC	embryonic stem cell:	n/a	chr22:29468755-29468771 chr22:29468836-29468852 chr22:29468907-29468923
38	PBX3	chr22:29468589-29468974	SK-N-SH	brain:	n/a	chr22:29468858-29468867
39	CBX3	chr22:29468342-29468790	K562	blood:	n/a	n/a
40	NR2F2	chr22:29468413-29469054	MCF-7	breast:	n/a	n/a
41	TBP	chr22:29468605-29468880	K562	blood:	n/a	n/a
42	CCNT2	chr22:29468640-29469201	K562	blood:	n/a	chr22:29468759-29468768
43	TCF3	chr22:29468719-29468948	GM12878	blood:	n/a	n/a
44	ZEB1	chr22:29468534-29468938	GM12878	blood:	n/a	chr22:29468767-29468774 chr22:29468824-29468831 chr22:29468765-29468774
45	BHLHE40	chr22:29468536-29468887	K562	blood:	n/a	n/a
46	SIN3A	chr22:29468652-29468927	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP1	chr22:29468679-29469067	GM12878	blood:	n/a	chr22:29468758-29468767 chr22:29468908-29468922 chr22:29468909-29468918 chr22:29468758-29468772 chr22:29468907-29468919 chr22:29468908-29468917 chr22:29468839-29468848 chr22:29468758-29468767 chr22:29468758-29468768 chr22:29468758-29468768 chr22:29468907-29468919 chr22:29468838-29468850 chr22:29468757-29468769 chr22:29468839-29468849 chr22:29468838-29468850 chr22:29468759-29468768 chr22:29468840-29468849 chr22:29468757-29468769
48	MXI1	chr22:29468579-29469136	HepG2	liver:	n/a	n/a
49	SP4	chr22:29468528-29469063	H1-hESC	embryonic stem cell:	n/a	chr22:29468755-29468771 chr22:29468836-29468852 chr22:29468907-29468923
50	RCOR1	chr22:29468674-29468850	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
KREMEN1	TF binding region
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13058510	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2294242	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34101206	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752863	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752866	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5762981	0.87[EUR][1000 genomes]
rs5762982	0.87[EUR][1000 genomes]
rs5762985	0.91[EUR][1000 genomes]
rs5762986	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762987	0.83[ASN][1000 genomes]
rs71327333	0.86[EUR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
3	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
6	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr22:29467200-29471200	Active TSS	Ovary	ovary
11	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
12	chr22:29467400-29468800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
14	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
17	chr22:29467400-29470000	Active TSS	Aorta	Aorta
18	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
19	chr22:29467400-29470200	Active TSS	Right Atrium	heart
20	chr22:29467600-29468800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr22:29467600-29468800	Flanking Active TSS	Liver	Liver
22	chr22:29467600-29468800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr22:29467600-29468800	Flanking Bivalent TSS/Enh	Thymus	Thymus
24	chr22:29467600-29470400	Active TSS	HSMM	muscle
25	chr22:29467800-29468800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:29467800-29468800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
28	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
29	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
30	chr22:29467800-29468800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr22:29467800-29468800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:29467800-29468800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr22:29467800-29468800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr22:29467800-29468800	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr22:29467800-29468800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:29467800-29468800	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr22:29467800-29468800	Flanking Active TSS	Fetal Lung	lung
38	chr22:29467800-29468800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr22:29467800-29468800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr22:29467800-29468800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr22:29467800-29468800	Flanking Active TSS	HepG2	liver
42	chr22:29467800-29468800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr22:29467800-29468800	Flanking Active TSS	NHEK	skin
44	chr22:29467800-29470200	Active TSS	Brain Substantia Nigra	brain
45	chr22:29467800-29470400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:29468000-29468800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:29468000-29468800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
48	chr22:29468000-29468800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr22:29468000-29468800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr22:29468000-29470600	Flanking Active TSS	Colonic Mucosa	Colon

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