Variant report

Variant	rs73392847
Chromosome Location	chr22:30162544-30162545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr22:30162414-30163145	HL-60	blood:	n/a	n/a
2	TAF1	chr22:30162350-30163865	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr22:30162490-30163590	HepG2	liver:	n/a	n/a
4	POLR2A	chr22:30161918-30164923	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:30162289-30163097	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:30162445-30163647	GM12892	blood:	n/a	n/a
7	HDAC2	chr22:30162211-30162679	HepG2	liver:	n/a	n/a
8	POLR2A	chr22:30162169-30164469	GM12891	blood:	n/a	n/a
9	TBP	chr22:30162278-30163627	HepG2	liver:	n/a	n/a
10	TAF1	chr22:30162526-30163157	HepG2	liver:	n/a	n/a
11	HNF4G	chr22:30162188-30162658	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:30162506-30163738	HUVEC	blood vessel:	n/a	n/a
13	MXI1	chr22:30162284-30163801	HepG2	liver:	n/a	n/a
14	RAD21	chr22:30162281-30162650	HepG2	liver:	n/a	n/a
15	HEY1	chr22:30162169-30163158	HepG2	liver:	n/a	n/a
16	STAT5A	chr22:30162128-30163631	GM12878	blood:	n/a	chr22:30163143-30163151
17	POLR2A	chr22:30162373-30163620	K562	blood:	n/a	n/a
18	RAD21	chr22:30162257-30163005	H1-hESC	embryonic stem cell:	n/a	chr22:30162717-30162731
19	SMARCC2	chr22:30162269-30163443	Hela-S3	cervix:	n/a	chr22:30163291-30163300 chr22:30163118-30163127
20	MAX	chr22:30162507-30163785	A549	lung:	n/a	n/a
21	RCOR1	chr22:30162336-30163631	HepG2	liver:	n/a	n/a
22	CTCF	chr22:30162400-30162550	Caco-2	colon:	n/a	n/a
23	PML	chr22:30162267-30164081	GM12878	blood:	n/a	n/a
24	HEY1	chr22:30162098-30163092	HepG2	liver:	n/a	n/a
25	EP300	chr22:30162311-30163796	HepG2	liver:	n/a	chr22:30162863-30162872
26	SIN3AK20	chr22:30162321-30162550	HepG2	liver:	n/a	n/a
27	POLR2A	chr22:30162386-30163930	GM18951	blood:	n/a	n/a
28	BCLAF1	chr22:30162517-30163250	GM12878	blood:	n/a	chr22:30163181-30163188
29	POLR2A	chr22:30162364-30163935	GM19099	blood:	n/a	n/a
30	TFAP2C	chr22:30162459-30163155	Hela-S3	cervix:	n/a	chr22:30162838-30162853
31	POLR2A	chr22:30162299-30163758	GM18505	blood:	n/a	n/a
32	POLR2A	chr22:30162488-30163167	U87	brain:	n/a	n/a
33	POLR2A	chr22:30162450-30163716	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:30162323-30164093	K562	blood:	n/a	n/a
35	MAX	chr22:30162527-30163771	ECC-1	luminal epithelium:	n/a	n/a
36	MAZ	chr22:30162332-30163639	K562	blood:	n/a	n/a
37	POLR2A	chr22:30162315-30163122	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:30162308-30163602	HepG2	liver:	n/a	n/a
39	POLR2A	chr22:30162373-30163634	K562	blood:	n/a	n/a
40	TBP	chr22:30162496-30163689	Hela-S3	cervix:	n/a	n/a
41	RELA	chr22:30162318-30163613	GM18951	blood:	n/a	n/a
42	REST	chr22:30162312-30163933	H1-neurons	neurons:	n/a	chr22:30162721-30162731 chr22:30162793-30162806
43	POLR2A	chr22:30162535-30163081	GM12892	blood:	n/a	n/a
44	SIN3AK20	chr22:30162408-30163979	MCF-7	breast:	n/a	n/a
45	POLR2A	chr22:30162491-30163135	HL-60	blood:	n/a	n/a
46	ELF1	chr22:30162330-30163602	MCF-7	breast:	n/a	chr22:30163076-30163088 chr22:30162860-30162873
47	POLR2A	chr22:30162408-30163746	MCF-7	breast:	n/a	n/a
48	POLR2A	chr22:30162359-30163098	HepG2	liver:	n/a	n/a
49	NFIC	chr22:30162357-30163047	HepG2	liver:	n/a	n/a
50	POLR2A	chr22:30162434-30163100	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30162510-30162560	GM12878	blood:	n/a
2	chr22:30162510-30162560	PrEC	prostate:	n/a
3	chr22:30162510-30162560	NB4	blood:	n/a
4	chr22:30162510-30162560	Hepatocyte	liver:	n/a
5	chr22:30162510-30162560	MCF10A-Er-Src	breast:	n/a
6	chr22:30162510-30162560	HPAEpiC	pulmonary alveolar:	n/a
7	chr22:30162510-30162560	HIPEpiC	eye:	n/a
8	chr22:30162510-30162560	LNCaP	prostate:	n/a
9	chr22:30162510-30162560	H1-hESC	embryonic stem cell:	embryo
10	chr22:30162510-30162560	HL-60	blood:	n/a
11	chr22:30162510-30162560	NHBE	bronchial:	n/a
12	chr22:30162510-30162560	GM12892	blood:	n/a
13	chr22:30162510-30162560	MCF-7	breast:	n/a
14	chr22:30162510-30162560	GM19239	blood:	n/a
15	chr22:30162510-30162560	PFSK-1	brain:	n/a
16	chr22:30162510-30162560	T-47D	breast:	n/a
17	chr22:30162510-30162560	ovcar-3	ovarian:	n/a
18	chr22:30162510-30162560	AG10803	skin:	n/a
19	chr22:30162510-30162560	HCM	heart:	n/a
20	chr22:30162510-30162560	HRCEpiC	kidney:	n/a
21	chr22:30162510-30162560	K562	blood:	n/a
22	chr22:30162510-30162560	A549	lung:	n/a
23	chr22:30162510-30162560	GM06990	blood:	n/a
24	chr22:30162510-30162560	HepG2	liver:	n/a
25	chr22:30162510-30162560	IMR90	lung:	fetal
26	chr22:30162510-30162560	HMEC	breast:	n/a
27	chr22:30162510-30162560	NT2-D1	testis:	n/a
28	chr22:30162510-30162560	U87	brain:	n/a
29	chr22:30162510-30162560	PANC-1	pancreas:	n/a
30	chr22:30162510-30162560	ProgFib	skin:	n/a
31	chr22:30162510-30162560	Hela-S3	cervix:	n/a
32	chr22:30162510-30162560	HRPEpiC	eye:	n/a
33	chr22:30162510-30162560	HNPCEpiC	eye:	n/a
34	chr22:30162510-30162560	HCF	heart:	n/a
35	chr22:30162510-30162560	BJ	skin:	n/a
36	chr22:30162510-30162560	HEEpiC	esophagus:	n/a
37	chr22:30162510-30162560	Caco-2	colon:	n/a
38	chr22:30162510-30162560	HCT-116	colon:	n/a
39	chr22:30162510-30162560	NHDF-neo	bronchial:	n/a
40	chr22:30162510-30162560	CMK	blood:	n/a
41	chr22:30162510-30162560	ECC-1	luminal epithelium:	n/a
42	chr22:30162510-30162560	AG04449	skin:	fetal
43	chr22:30162510-30162560	HAEpiC	amniotic membrane:	n/a
44	chr22:30162510-30162560	SK-N-SH_RA	brain:	n/a
45	chr22:30162510-30162560	AG09319	gingival:	n/a
46	chr22:30162510-30162560	Jurkat	blood:	n/a
47	chr22:30162510-30162560	SAEC	small airway:	n/a
48	chr22:30162510-30162560	BE2_C	brain:	n/a
49	chr22:30162510-30162560	SK-N-MC	brain:	n/a
50	chr22:30162510-30162560	NH-A	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30162371..30164035-chr22:30233277..30234908,2	MCF-7	breast:
2	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:
3	chr22:30161016..30163060-chr22:30205322..30207910,2	MCF-7	breast:
4	chr22:30094321..30096563-chr22:30160914..30162763,2	MCF-7	breast:
5	chr22:30155454..30157843-chr22:30160935..30162894,2	MCF-7	breast:
6	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
7	chr22:30161121..30163790-chr22:30207742..30209725,2	MCF-7	breast:

No data

Variant related genes	Relation type
UQCR10	TF binding region
UQCR10	CpG island
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2051858	1.00[AMR][1000 genomes]
rs2051859	1.00[AMR][1000 genomes]
rs2107672	1.00[AMR][1000 genomes]
rs2107673	1.00[AMR][1000 genomes]
rs2158535	1.00[AMR][1000 genomes]
rs2232904	1.00[AMR][1000 genomes]
rs56836109	1.00[AMR][1000 genomes]
rs57349783	1.00[AMR][1000 genomes]
rs57561197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57631440	1.00[AMR][1000 genomes]
rs57889745	1.00[AMR][1000 genomes]
rs58198399	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58906954	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59632146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59732153	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006286	1.00[AMR][1000 genomes]
rs60416116	1.00[AMR][1000 genomes]
rs60573683	1.00[AMR][1000 genomes]
rs60613378	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61310283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390968	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392870	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392878	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392894	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394839	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394864	1.00[AMR][1000 genomes]
rs73394865	1.00[AMR][1000 genomes]
rs73394872	1.00[AMR][1000 genomes]
rs73394875	1.00[AMR][1000 genomes]
rs73394884	1.00[AMR][1000 genomes]
rs73394885	1.00[AMR][1000 genomes]
rs73394887	1.00[AMR][1000 genomes]
rs73394890	1.00[AMR][1000 genomes]
rs73394892	1.00[AMR][1000 genomes]
rs73394897	1.00[AMR][1000 genomes]
rs73396803	1.00[AMR][1000 genomes]
rs73396810	1.00[AMR][1000 genomes]
rs73396811	1.00[AMR][1000 genomes]
rs73396818	1.00[AMR][1000 genomes]
rs73396822	1.00[AMR][1000 genomes]
rs73396823	1.00[AMR][1000 genomes]
rs73396826	1.00[AMR][1000 genomes]
rs73396827	1.00[AMR][1000 genomes]
rs73396828	1.00[AMR][1000 genomes]
rs73396830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30161000-30164000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30161800-30162600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:30161800-30162600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:30161800-30162600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr22:30161800-30162600	Flanking Active TSS	Dnd41	blood
6	chr22:30161800-30162800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr22:30161800-30162800	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr22:30161800-30162800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr22:30161800-30163000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr22:30161800-30163000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr22:30161800-30164000	Active TSS	Rectal Smooth Muscle	rectum
12	chr22:30161800-30164200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr22:30161800-30164800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr22:30162000-30162600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:30162000-30162600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:30162000-30162600	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr22:30162000-30162600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr22:30162000-30162600	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr22:30162000-30162600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr22:30162000-30162600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr22:30162000-30162600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr22:30162000-30162600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr22:30162000-30162600	Flanking Active TSS	Fetal Brain Female	brain
24	chr22:30162000-30162600	Flanking Active TSS	Pancreas	Pancrea
25	chr22:30162000-30162600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr22:30162000-30162600	Flanking Active TSS	Right Atrium	heart
27	chr22:30162000-30162600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:30162000-30162600	Flanking Active TSS	Spleen	Spleen
29	chr22:30162000-30162600	Flanking Active TSS	Hela-S3	cervix
30	chr22:30162000-30162600	Flanking Active TSS	NHEK	skin
31	chr22:30162000-30162800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:30162000-30162800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr22:30162000-30162800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:30162000-30162800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr22:30162000-30162800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:30162000-30162800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr22:30162000-30163000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:30162000-30163000	Flanking Active TSS	Liver	Liver
39	chr22:30162000-30164000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr22:30162000-30164200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr22:30162000-30164400	Active TSS	HSMM	muscle
42	chr22:30162000-30164600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr22:30162000-30164600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:30162000-30164600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr22:30162000-30164600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr22:30162000-30164600	Active TSS	A549	lung
47	chr22:30162200-30162600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30162200-30162600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:30162200-30162600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:30162200-30162600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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