Variant report

Variant	rs73401088
Chromosome Location	chr22:29661804-29661805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29661211-29662046	GM12891	blood:	n/a	n/a
2	POLR2A	chr22:29661169-29667225	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:29661748-29662197	K562	blood:	n/a	n/a
4	POLR2A	chr22:29661598-29662245	K562	blood:	n/a	n/a
5	POLR2A	chr22:29661184-29664672	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:29661114-29667320	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr22:29661756-29662257	HepG2	liver:	n/a	n/a
8	POLR2A	chr22:29661584-29667287	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29661771-29661821	HCM	heart:	n/a
2	chr22:29661771-29661821	AG04449	skin:	fetal
3	chr22:29661771-29661821	HCT-116	colon:	n/a
4	chr22:29661771-29661821	SK-N-MC	brain:	n/a
5	chr22:29661771-29661821	ProgFib	skin:	n/a
6	chr22:29661771-29661821	A549	lung:	n/a
7	chr22:29661771-29661821	NB4	blood:	n/a
8	chr22:29661771-29661821	HAEpiC	amniotic membrane:	n/a
9	chr22:29661771-29661821	MCF-7	breast:	n/a
10	chr22:29661771-29661821	SAEC	small airway:	n/a
11	chr22:29661771-29661821	HCF	heart:	n/a
12	chr22:29661771-29661821	Caco-2	colon:	n/a
13	chr22:29661771-29661821	RPTEC	kidney:	n/a
14	chr22:29661771-29661821	SK-N-SH_RA	brain:	n/a
15	chr22:29661771-29661821	AoSMC	blood vessel:	n/a
16	chr22:29661771-29661821	HEK293	kidney:	embryo
17	chr22:29661771-29661821	NHBE	bronchial:	n/a
18	chr22:29661771-29661821	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:29661771-29661821	Jurkat	blood:	n/a
20	chr22:29661771-29661821	HCPEpiC	choroid plexus:	n/a
21	chr22:29661771-29661821	H1-hESC	embryonic stem cell:	embryo
22	chr22:29661771-29661821	AG04450	lung:	fetal
23	chr22:29661771-29661821	GM19239	blood:	n/a
24	chr22:29661771-29661821	HUVEC	blood vessel:	n/a
25	chr22:29661771-29661821	AG09309	skin:	n/a
26	chr22:29661771-29661821	HMEC	breast:	n/a
27	chr22:29661771-29661821	PFSK-1	brain:	n/a
28	chr22:29661771-29661821	T-47D	breast:	n/a
29	chr22:29661771-29661821	ECC-1	luminal epithelium:	n/a
30	chr22:29661771-29661821	PANC-1	pancreas:	n/a
31	chr22:29661771-29661821	U87	brain:	n/a
32	chr22:29661771-29661821	GM12878	blood:	n/a
33	chr22:29661771-29661821	HL-60	blood:	n/a
34	chr22:29661771-29661821	HIPEpiC	eye:	n/a
35	chr22:29661771-29661821	IMR90	lung:	fetal
36	chr22:29661771-29661821	CMK	blood:	n/a
37	chr22:29661771-29661821	Hela-S3	cervix:	n/a
38	chr22:29661771-29661821	HepG2	liver:	n/a
39	chr22:29661771-29661821	PrEC	prostate:	n/a
40	chr22:29661771-29661821	BJ	skin:	n/a
41	chr22:29661771-29661821	NH-A	brain:	n/a
42	chr22:29661771-29661821	BE2_C	brain:	n/a
43	chr22:29661771-29661821	HRE	kidney:	n/a
44	chr22:29661771-29661821	MCF10A-Er-Src	breast:	n/a
45	chr22:29661771-29661821	GM12891	blood:	n/a
46	chr22:29661771-29661821	HRPEpiC	eye:	n/a
47	chr22:29661771-29661821	HNPCEpiC	eye:	n/a
48	chr22:29661771-29661821	Hepatocyte	liver:	n/a
49	chr22:29661771-29661821	LNCaP	prostate:	n/a
50	chr22:29661771-29661821	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29660929..29666447-chr22:29700529..29705135,9	K562	blood:
2	chr22:29654217..29657445-chr22:29658284..29661902,3	MCF-7	breast:

No data

Variant related genes	Relation type
EWSR1	TF binding region
RHBDD3	TF binding region
RHBDD3	CpG island
EWSR1	CpG island
ENSG00000185340	Chromatin interaction
ENSG00000237015	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2231397	1.00[AMR][1000 genomes]
rs56678071	1.00[AMR][1000 genomes]
rs58075735	1.00[AMR][1000 genomes]
rs58668414	1.00[AMR][1000 genomes]
rs58938110	1.00[AMR][1000 genomes]
rs60483568	1.00[AMR][1000 genomes]
rs60619083	1.00[AMR][1000 genomes]
rs60770384	1.00[AMR][1000 genomes]
rs73390897	1.00[AMR][1000 genomes]
rs73393032	1.00[AMR][1000 genomes]
rs73393045	1.00[AMR][1000 genomes]
rs73397022	1.00[AMR][1000 genomes]
rs73401064	1.00[AMR][1000 genomes]
rs73401075	1.00[AMR][1000 genomes]
rs73401085	1.00[AMR][1000 genomes]
rs73401086	1.00[AMR][1000 genomes]
rs73401101	1.00[AMR][1000 genomes]
rs73403003	1.00[AMR][1000 genomes]
rs73403006	1.00[AMR][1000 genomes]
rs73403025	1.00[AMR][1000 genomes]
rs73403028	1.00[AMR][1000 genomes]
rs73403032	1.00[AMR][1000 genomes]
rs73403036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403038	1.00[AMR][1000 genomes]
rs73405063	1.00[AMR][1000 genomes]
rs73405072	1.00[AMR][1000 genomes]
rs73407010	1.00[AMR][1000 genomes]
rs73407015	1.00[AMR][1000 genomes]
rs73407023	1.00[AMR][1000 genomes]
rs73407027	1.00[AMR][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	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
2	chr22:29647400-29662000	Strong transcription	Fetal Stomach	stomach
3	chr22:29649000-29662400	Weak transcription	Fetal Brain Male	brain
4	chr22:29650200-29662600	Weak transcription	Stomach Mucosa	stomach
5	chr22:29653600-29662200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:29654200-29662600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:29654600-29662200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr22:29654600-29662400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:29654600-29662400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr22:29654600-29662600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr22:29654800-29662400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr22:29655600-29662800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:29658200-29662200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:29658200-29662200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:29658200-29662400	Weak transcription	Right Atrium	heart
16	chr22:29658400-29662800	Weak transcription	Primary B cells from cord blood	blood
17	chr22:29658600-29662600	Weak transcription	Psoas Muscle	Psoas
18	chr22:29659200-29662000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29659400-29662000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr22:29659400-29662000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr22:29659400-29662000	Weak transcription	Hela-S3	cervix
22	chr22:29659600-29662000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:29659600-29662000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:29659600-29662000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr22:29659600-29662000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:29659600-29662000	Strong transcription	Adipose Nuclei	Adipose
27	chr22:29659600-29662000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:29659600-29662000	Strong transcription	Fetal Muscle Leg	muscle
29	chr22:29659600-29662000	Strong transcription	Placenta	Placenta
30	chr22:29659600-29662200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:29659600-29662200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:29659600-29662200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:29659600-29662200	Strong transcription	Fetal Thymus	thymus
34	chr22:29659600-29662200	Strong transcription	A549	lung
35	chr22:29659600-29662400	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr22:29659600-29662400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:29659600-29662400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:29659800-29662000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:29659800-29662000	Strong transcription	Aorta	Aorta
40	chr22:29659800-29662000	Strong transcription	Brain Substantia Nigra	brain
41	chr22:29659800-29662000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr22:29659800-29662000	Strong transcription	Esophagus	oesophagus
43	chr22:29659800-29662000	Strong transcription	Fetal Brain Female	brain
44	chr22:29659800-29662000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:29659800-29662000	Strong transcription	HMEC	breast
46	chr22:29659800-29662200	Strong transcription	Osteobl	bone
47	chr22:29659800-29662400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:29659800-29662400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr22:29659800-29662400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:29659800-29662400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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