Variant report

Variant	rs2253258
Chromosome Location	chr9:104161154-104161155
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:392)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr9:104160528-104161313	K562	blood:	n/a	n/a
2	GABPA	chr9:104160781-104161191	HepG2	liver:	n/a	n/a
3	ATF2	chr9:104160652-104161362	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:104160562-104161355	SK-N-SH	brain:	n/a	n/a
5	RFX5	chr9:104160698-104161179	K562	blood:	n/a	chr9:104160934-104160943
6	POLR2A	chr9:104160529-104161290	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr9:104160765-104161175	K562	blood:	n/a	n/a
8	POLR2A	chr9:104160166-104161429	Raji	blood:	n/a	n/a
9	POLR2A	chr9:104160088-104161353	GM12892	blood:	n/a	n/a
10	SPI1	chr9:104160958-104161272	GM12891	blood:	n/a	chr9:104161156-104161169
11	POLR2A	chr9:104160082-104161392	K562	blood:	n/a	n/a
12	ELF1	chr9:104160544-104161354	GM12878	blood:	n/a	chr9:104161121-104161133
13	ELF1	chr9:104160749-104161212	K562	blood:	n/a	chr9:104161121-104161133
14	SIN3A	chr9:104160269-104161630	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:104160600-104161314	K562	blood:	n/a	n/a
16	IRF1	chr9:104160766-104161257	K562	blood:	n/a	chr9:104160965-104160979 chr9:104160933-104160942
17	CREB1	chr9:104160470-104161398	GM12878	blood:	n/a	n/a
18	TCF12	chr9:104160804-104161387	ECC-1	luminal epithelium:	n/a	n/a
19	ETS1	chr9:104160557-104161319	GM12878	blood:	n/a	chr9:104161068-104161081 chr9:104161004-104161017 chr9:104161070-104161077 chr9:104161294-104161305 chr9:104161069-104161082
20	MAX	chr9:104160414-104161240	K562	blood:	n/a	n/a
21	POLR2A	chr9:104160379-104161430	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr9:104160663-104161350	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr9:104161057-104161247	A549	lung:	n/a	n/a
24	CEBPB	chr9:104160082-104161211	IMR90	lung:	n/a	chr9:104160934-104160942
25	FOXA1	chr9:104160777-104161155	T-47D	breast:	n/a	n/a
26	POLR2A	chr9:104160565-104161585	MCF-7	breast:	n/a	n/a
27	POLR2A	chr9:104159706-104161403	HepG2	liver:	n/a	n/a
28	MAX	chr9:104160029-104162070	NB4	blood:	n/a	n/a
29	CHD2	chr9:104160140-104161433	Hela-S3	cervix:	n/a	n/a
30	ZBTB33	chr9:104160546-104161183	A549	lung:	n/a	chr9:104160684-104160694
31	POLR2A	chr9:104160019-104161433	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:104160490-104161365	GM12891	blood:	n/a	n/a
33	POLR2A	chr9:104160437-104161576	K562	blood:	n/a	n/a
34	YY1	chr9:104160464-104161323	GM12892	blood:	n/a	chr9:104160866-104160878
35	YY1	chr9:104160562-104161335	K562	blood:	n/a	chr9:104160866-104160878
36	RCOR1	chr9:104160561-104161190	GM12878	blood:	n/a	n/a
37	ELF1	chr9:104160625-104161707	GM12878	blood:	n/a	chr9:104161121-104161133
38	POLR2A	chr9:104161077-104161400	HepG2	liver:	n/a	n/a
39	ZKSCAN1	chr9:104160556-104161447	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr9:104160615-104161298	PANC-1	pancreas:	n/a	n/a
41	EGR1	chr9:104160666-104161384	ECC-1	luminal epithelium:	n/a	chr9:104161118-104161131 chr9:104160992-104161016 chr9:104161118-104161131 chr9:104161057-104161081 chr9:104161119-104161133
42	POLR2A	chr9:104159896-104161635	K562	blood:	n/a	n/a
43	GABPA	chr9:104160800-104161303	K562	blood:	n/a	n/a
44	POLR2A	chr9:104160582-104161564	GM15510	blood:	n/a	n/a
45	SIN3AK20	chr9:104160331-104161223	HepG2	liver:	n/a	n/a
46	ELF1	chr9:104160582-104161376	MCF-7	breast:	n/a	chr9:104161121-104161133
47	TEAD4	chr9:104160294-104161258	K562	blood:	n/a	n/a
48	GABPA	chr9:104160835-104161158	HepG2	liver:	n/a	n/a
49	REST	chr9:104159839-104161888	H1-neurons	neurons:	n/a	chr9:104161781-104161801 chr9:104161360-104161370
50	YY1	chr9:104160600-104161222	GM12891	blood:	n/a	chr9:104160866-104160878

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:104161122-104161172	HEK293	kidney:	embryo
2	chr9:104161122-104161172	GM12878	blood:	n/a
3	chr9:104161122-104161172	SK-N-SH	brain:	n/a
4	chr9:104161122-104161172	GM06990	blood:	n/a
5	chr9:104161122-104161172	LNCaP	prostate:	n/a
6	chr9:104161122-104161172	AG04450	lung:	fetal
7	chr9:104161122-104161172	AG10803	skin:	n/a
8	chr9:104161122-104161172	HCF	heart:	n/a
9	chr9:104161122-104161172	HCM	heart:	n/a
10	chr9:104161122-104161172	PANC-1	pancreas:	n/a
11	chr9:104161122-104161172	HCT-116	colon:	n/a
12	chr9:104161122-104161172	Jurkat	blood:	n/a
13	chr9:104161122-104161172	HRPEpiC	eye:	n/a
14	chr9:104161122-104161172	CMK	blood:	n/a
15	chr9:104161122-104161172	HCPEpiC	choroid plexus:	n/a
16	chr9:104161122-104161172	NHBE	bronchial:	n/a
17	chr9:104161122-104161172	PFSK-1	brain:	n/a
18	chr9:104161122-104161172	HRE	kidney:	n/a
19	chr9:104161122-104161172	HMEC	breast:	n/a
20	chr9:104161122-104161172	Caco-2	colon:	n/a
21	chr9:104161122-104161172	RPTEC	kidney:	n/a
22	chr9:104161122-104161172	AG04449	skin:	fetal
23	chr9:104161122-104161172	Hepatocyte	liver:	n/a
24	chr9:104161122-104161172	HAEpiC	amniotic membrane:	n/a
25	chr9:104161122-104161172	U87	brain:	n/a
26	chr9:104161122-104161172	HUVEC	blood vessel:	n/a
27	chr9:104161122-104161172	GM12891	blood:	n/a
28	chr9:104161122-104161172	Hela-S3	cervix:	n/a
29	chr9:104161122-104161172	BJ	skin:	n/a
30	chr9:104161122-104161172	T-47D	breast:	n/a
31	chr9:104161122-104161172	GM19239	blood:	n/a
32	chr9:104161122-104161172	AG09309	skin:	n/a
33	chr9:104161122-104161172	SAEC	small airway:	n/a
34	chr9:104161122-104161172	IMR90	lung:	fetal
35	chr9:104161122-104161172	SK-N-SH_RA	brain:	n/a
36	chr9:104161122-104161172	NHDF-neo	bronchial:	n/a
37	chr9:104161122-104161172	NH-A	brain:	n/a
38	chr9:104161122-104161172	AoSMC	blood vessel:	n/a
39	chr9:104161122-104161172	HepG2	liver:	n/a
40	chr9:104161122-104161172	MCF10A-Er-Src	breast:	n/a
41	chr9:104161122-104161172	A549	lung:	n/a
42	chr9:104161122-104161172	GM12892	blood:	n/a
43	chr9:104161122-104161172	HIPEpiC	eye:	n/a
44	chr9:104161122-104161172	HRCEpiC	kidney:	n/a
45	chr9:104161122-104161172	MCF-7	breast:	n/a
46	chr9:104161122-104161172	ECC-1	luminal epithelium:	n/a
47	chr9:104161122-104161172	ProgFib	skin:	n/a
48	chr9:104161122-104161172	NB4	blood:	n/a
49	chr9:104161122-104161172	HL-60	blood:	n/a
50	chr9:104161122-104161172	HPAEpiC	pulmonary alveolar:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104130853..104133912-chr9:104158398..104162011,4	K562	blood:
2	chr1:111682274..111682946-chr9:104160392..104161264,2	NB4	blood:
3	chr9:104160683..104161236-chr9:104211196..104212187,2	MCF-7	breast:
4	chr9:104160949..104162500-chr9:104190805..104192507,2	MCF-7	breast:
5	chr9:104159029..104163428-chr9:104247830..104250587,4	K562	blood:
6	chr17:56756475..56757108-chr9:104160352..104161238,3	Hela-S3	cervix:
7	chr12:861447..862185-chr9:104160705..104161595,2	Hela-S3	cervix:
8	chr9:104128710..104133912-chr9:104158398..104162224,6	K562	blood:
9	chr20:47894747..47895681-chr9:104160854..104161358,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ZNF189	TF binding region
MRPL50	TF binding region
MRPL50	CpG island
ZNF189	CpG island
ENSG00000124201	Chromatin interaction
ENSG00000270982	Chromatin interaction
ENSG00000165152	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000136872	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000156171	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000136881	Chromatin interaction
ENSG00000134255	Chromatin interaction
ENSG00000060237	Chromatin interaction

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104158200-104162400	Active TSS	GM12878-XiMat	blood
2	chr9:104159400-104161800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:104159400-104161800	Active TSS	Brain Germinal Matrix	brain
4	chr9:104159400-104162000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr9:104159400-104162000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr9:104159400-104162400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:104159400-104162400	Active TSS	NHLF	lung
8	chr9:104159400-104162600	Active TSS	Psoas Muscle	Psoas
9	chr9:104159600-104161800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr9:104159600-104161800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:104159600-104162000	Active TSS	K562	blood
12	chr9:104159600-104162400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr9:104159600-104162400	Active TSS	Left Ventricle	heart
14	chr9:104159800-104161600	Active TSS	Fetal Thymus	thymus
15	chr9:104159800-104161800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:104159800-104161800	Active TSS	NHEK	skin
17	chr9:104159800-104162000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:104159800-104162000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:104159800-104162000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr9:104159800-104162000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:104159800-104162000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:104159800-104162000	Active TSS	A549	lung
23	chr9:104159800-104162200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:104159800-104162200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:104159800-104162200	Active TSS	NHDF-Ad	bronchial
26	chr9:104159800-104162400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr9:104159800-104162400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:104159800-104162400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr9:104159800-104162400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:104159800-104162400	Active TSS	Fetal Intestine Large	intestine
31	chr9:104159800-104162600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:104160000-104161400	Active TSS	Placenta	Placenta
33	chr9:104160000-104161800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr9:104160000-104161800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr9:104160000-104161800	Active TSS	HMEC	breast
36	chr9:104160000-104162000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:104160000-104162000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:104160000-104162000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:104160000-104162000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:104160000-104162000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:104160000-104162000	Active TSS	Ovary	ovary
42	chr9:104160000-104162000	Active TSS	Right Ventricle	heart
43	chr9:104160000-104162000	Active TSS	Stomach Mucosa	stomach
44	chr9:104160000-104162000	Active TSS	HSMMtube	muscle
45	chr9:104160000-104162200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:104160000-104162200	Active TSS	Fetal Muscle Trunk	muscle
47	chr9:104160000-104162400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr9:104160000-104162400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:104160000-104162400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:104160000-104162400	Active TSS	Fetal Intestine Small	intestine

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