Variant report

Variant	rs2253422
Chromosome Location	chr10:5932187-5932188
allele	A/C
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	chr10:5931585-5932882	MCF10A-Er-Src	breast:	n/a	n/a
2	ZBTB33	chr10:5931769-5932397	SK-N-SH	brain:	n/a	chr10:5932107-5932117
3	PBX3	chr10:5931833-5932309	GM12878	blood:	n/a	chr10:5932053-5932073 chr10:5932104-5932124
4	UBTF	chr10:5930835-5932390	K562	blood:	n/a	n/a
5	TAF1	chr10:5931525-5932390	HepG2	liver:	n/a	n/a
6	YY1	chr10:5931551-5932348	ECC-1	luminal epithelium:	n/a	chr10:5932023-5932037 chr10:5932150-5932161 chr10:5932127-5932141 chr10:5932133-5932142
7	MXI1	chr10:5930847-5932400	GM12878	blood:	n/a	n/a
8	GTF2F1	chr10:5931754-5932253	H1-hESC	embryonic stem cell:	n/a	n/a
9	ELF1	chr10:5931635-5932346	MCF-7	breast:	n/a	chr10:5932131-5932143 chr10:5932153-5932165 chr10:5932018-5932030
10	POLR2A	chr10:5931598-5932410	HCT-116	colon:	n/a	n/a
11	ARID3A	chr10:5932049-5932198	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:5932144-5932387	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:5932067-5932365	GM12892	blood:	n/a	n/a
14	FOS	chr10:5931906-5932234	Hela-S3	cervix:	n/a	n/a
15	JUND	chr10:5931398-5932437	A549	lung:	n/a	n/a
16	TAF1	chr10:5932035-5932363	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr10:5932068-5932318	HL-60	blood:	n/a	n/a
18	MAX	chr10:5931652-5932278	K562	blood:	n/a	n/a
19	CREB1	chr10:5931453-5932411	GM12878	blood:	n/a	n/a
20	FOS	chr10:5931870-5932265	GM12878	blood:	n/a	n/a
21	CTCF	chr10:5932100-5932250	GM12875	blood:	n/a	chr10:5932131-5932144 chr10:5932131-5932144
22	SP1	chr10:5931539-5932414	A549	lung:	n/a	chr10:5931901-5931915 chr10:5932161-5932170 chr10:5931971-5931980 chr10:5932001-5932011 chr10:5931890-5931899 chr10:5931888-5931900 chr10:5932001-5932011 chr10:5932159-5932171 chr10:5932340-5932350 chr10:5931970-5931982 chr10:5931889-5931898 chr10:5931901-5931910 chr10:5931970-5931981 chr10:5932090-5932111 chr10:5931705-5931719 chr10:5931902-5931911 chr10:5931970-5931982 chr10:5931853-5931867 chr10:5932039-5932060 chr10:5932339-5932351 chr10:5931900-5931912 chr10:5931888-5931900 chr10:5932159-5932171 chr10:5931901-5931910
23	GABPA	chr10:5931610-5932390	H1-hESC	embryonic stem cell:	n/a	chr10:5932025-5932034
24	SP1	chr10:5931396-5932360	HCT-116	colon:	n/a	chr10:5931901-5931915 chr10:5932161-5932170 chr10:5931971-5931980 chr10:5932001-5932011 chr10:5931890-5931899 chr10:5931888-5931900 chr10:5932001-5932011 chr10:5932159-5932171 chr10:5932340-5932350 chr10:5931970-5931982 chr10:5931889-5931898 chr10:5931901-5931910 chr10:5931970-5931981 chr10:5932090-5932111 chr10:5931705-5931719 chr10:5931902-5931911 chr10:5931970-5931982 chr10:5931853-5931867 chr10:5932039-5932060 chr10:5932339-5932351 chr10:5931900-5931912 chr10:5931888-5931900 chr10:5932159-5932171 chr10:5931901-5931910
25	POLR2A	chr10:5932099-5932391	A549	lung:	n/a	n/a
26	CTCF	chr10:5932080-5932230	SK-N-SH_RA	brain:	n/a	chr10:5932131-5932144 chr10:5932131-5932144
27	SP1	chr10:5931696-5932299	GM12878	blood:	n/a	chr10:5931901-5931915 chr10:5932161-5932170 chr10:5931971-5931980 chr10:5932001-5932011 chr10:5931890-5931899 chr10:5931888-5931900 chr10:5932001-5932011 chr10:5932159-5932171 chr10:5931970-5931982 chr10:5931889-5931898 chr10:5931901-5931910 chr10:5931970-5931981 chr10:5932090-5932111 chr10:5931705-5931719 chr10:5931902-5931911 chr10:5931970-5931982 chr10:5931853-5931867 chr10:5932039-5932060 chr10:5931900-5931912 chr10:5931888-5931900 chr10:5932159-5932171 chr10:5931901-5931910
28	MAX	chr10:5930268-5932989	HepG2	liver:	n/a	chr10:5932340-5932350
29	TAF1	chr10:5931390-5932418	MCF-7	breast:	n/a	n/a
30	MXI1	chr10:5930179-5932450	IMR90	lung:	n/a	n/a
31	GABPA	chr10:5931607-5932425	A549	lung:	n/a	chr10:5932025-5932034
32	POLR2A	chr10:5931494-5932373	PFSK-1	brain:	n/a	n/a
33	YY1	chr10:5931798-5932386	GM12878	blood:	n/a	chr10:5932023-5932037 chr10:5932150-5932161 chr10:5932127-5932141 chr10:5932133-5932142
34	RFX5	chr10:5931637-5932339	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr10:5931648-5932237	HepG2	liver:	n/a	n/a
36	ELK4	chr10:5931821-5932261	HEK293	kidney:	n/a	chr10:5931986-5931997
37	POLR2A	chr10:5931572-5932512	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF7L2	chr10:5930941-5932202	HCT-116	colon:	n/a	n/a
39	TAF1	chr10:5931453-5932301	A549	lung:	n/a	n/a
40	TBP	chr10:5931534-5932400	K562	blood:	n/a	n/a
41	CTCF	chr10:5932100-5932250	AG04449	skin:	n/a	chr10:5932131-5932144 chr10:5932131-5932144
42	FOS	chr10:5931823-5932283	K562	blood:	n/a	n/a
43	SP2	chr10:5931696-5932353	H1-hESC	embryonic stem cell:	n/a	chr10:5932103-5932126 chr10:5932052-5932075
44	ELF1	chr10:5931852-5932218	A549	lung:	n/a	chr10:5932131-5932143 chr10:5932153-5932165 chr10:5932018-5932030
45	NFYB	chr10:5931825-5932239	Hela-S3	cervix:	n/a	chr10:5932097-5932112 chr10:5932097-5932112 chr10:5932101-5932113
46	HCFC1	chr10:5931450-5932470	Hela-S3	cervix:	n/a	n/a
47	IRF3	chr10:5931936-5932195	HepG2	liver:	n/a	chr10:5932159-5932173 chr10:5931968-5931982 chr10:5932000-5932014
48	JUND	chr10:5931638-5932228	K562	blood:	n/a	n/a
49	MAX	chr10:5930370-5932966	HepG2	liver:	n/a	chr10:5932340-5932350
50	HEY1	chr10:5932060-5933493	K562	blood:	n/a	chr10:5932150-5932165 chr10:5932125-5932140 chr10:5932557-5932572 chr10:5932551-5932566

No.	Distal block	Cell Line	Cell type
1	chr10:5707419..5708953-chr10:5931052..5933501,2	MCF-7	breast:
2	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
3	chr10:5707177..5709381-chr10:5931479..5933432,3	MCF-7	breast:
4	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:
5	chr10:5903402..5905306-chr10:5930976..5933543,3	MCF-7	breast:
6	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
7	chr10:5931600..5932308-chr17:37009547..37010442,2	HCT-116	colon:
8	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
9	chr10:5930925..5933506-chr10:6244058..6246915,2	MCF-7	breast:
10	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
11	chr10:5931780..5932593-chr11:2720733..2721352,2	HCT-116	colon:
12	chr10:5930440..5932910-chr10:5957697..5960803,4	MCF-7	breast:
13	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
14	chr10:5931081..5933467-chr10:5942750..5946622,4	MCF-7	breast:
15	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
16	chr10:5488345..5491486-chr10:5930515..5933192,3	MCF-7	breast:
17	chr10:5725559..5728313-chr10:5930802..5933492,3	K562	blood:

Variant related genes	Relation type
FBXO18	TF binding region
ANKRD16	TF binding region
ENSG00000134470	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000125691	Chromatin interaction
ENSG00000269821	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000240180	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1052420	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs1707228	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs2274030	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2669124	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs2985042	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs2985043	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs2985044	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs593026	0.82[JPT][hapmap]
rs596156	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs599394	0.93[JPT][hapmap]
rs608197	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs609269	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs615879	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs617165	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs622252	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs626040	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs628844	0.93[JPT][hapmap]
rs646406	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs646490	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs647391	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs661411	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs662701	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs664577	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs666831	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs672624	0.81[EUR][1000 genomes]
rs673496	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs675416	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs679610	0.85[CHB][hapmap]
rs684557	0.82[CHB][hapmap]
rs7071536	0.84[JPT][hapmap]
rs7091817	0.86[JPT][hapmap]
rs792347	0.85[CHB][hapmap]
rs811561	0.85[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3389321	chr10:5930371-5933119	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3360468	chr10:5930971-5933519	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	esv3363304	chr10:5931446-5933494	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5930200-5932600	Active TSS	Fetal Muscle Trunk	muscle
2	chr10:5930600-5932600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr10:5930600-5932600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:5930600-5932600	Active TSS	Aorta	Aorta
5	chr10:5930600-5932800	Active TSS	Fetal Intestine Small	intestine
6	chr10:5930600-5933000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:5930600-5933000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:5930600-5933000	Active TSS	GM12878-XiMat	blood
9	chr10:5930600-5933200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:5930600-5933200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:5930600-5933400	Active TSS	Ovary	ovary
12	chr10:5930600-5933600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr10:5930800-5932600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:5930800-5932600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:5930800-5932600	Active TSS	Brain Anterior Caudate	brain
16	chr10:5930800-5932600	Active TSS	Brain Hippocampus Middle	brain
17	chr10:5930800-5932600	Active TSS	Brain Substantia Nigra	brain
18	chr10:5930800-5932600	Active TSS	Left Ventricle	heart
19	chr10:5930800-5932600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr10:5930800-5932800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:5930800-5932800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr10:5930800-5932800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:5930800-5932800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:5930800-5932800	Active TSS	Colon Smooth Muscle	Colon
25	chr10:5930800-5932800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr10:5930800-5932800	Active TSS	Fetal Kidney	kidney
27	chr10:5930800-5932800	Active TSS	Fetal Stomach	stomach
28	chr10:5930800-5932800	Active TSS	Rectal Smooth Muscle	rectum
29	chr10:5930800-5932800	Active TSS	HSMMtube	muscle
30	chr10:5930800-5932800	Active TSS	Osteobl	bone
31	chr10:5930800-5933000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr10:5930800-5933000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:5930800-5933000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr10:5930800-5933000	Active TSS	Small Intestine	intestine
35	chr10:5930800-5933000	Active TSS	A549	lung
36	chr10:5930800-5933200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr10:5930800-5933200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr10:5930800-5933400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr10:5930800-5933400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr10:5931000-5932400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:5931000-5932600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:5931000-5932600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:5931000-5932600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr10:5931000-5932600	Active TSS	Primary B cells from peripheral blood	blood
45	chr10:5931000-5932600	Active TSS	Primary T cells from cord blood	blood
46	chr10:5931000-5932600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:5931000-5932600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr10:5931000-5932600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr10:5931000-5932600	Active TSS	Brain Cingulate Gyrus	brain
50	chr10:5931000-5932600	Active TSS	Brain Germinal Matrix	brain

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