Variant report

Variant	rs7682222
Chromosome Location	chr4:48902243-48902244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr4:48901943-48902420	K562	blood:	n/a	n/a
2	MAFK	chr4:48902127-48902281	K562	blood:	n/a	n/a
3	MAZ	chr4:48902130-48902261	K562	blood:	n/a	n/a
4	POLR2A	chr4:48902095-48902337	H1-hESC	embryonic stem cell:	n/a	n/a
5	ARID3A	chr4:48902033-48902294	K562	blood:	n/a	n/a
6	FOS	chr4:48902026-48902339	MCF10A-Er-Src	breast:	n/a	n/a
7	ZNF143	chr4:48901958-48902283	K562	blood:	n/a	n/a
8	HDAC2	chr4:48902082-48902333	K562	blood:	n/a	n/a
9	TBL1XR1	chr4:48901775-48902289	K562	blood:	n/a	n/a
10	STAT3	chr4:48902117-48902317	MCF10A-Er-Src	breast:	n/a	n/a
11	TBP	chr4:48902237-48902309	K562	blood:	n/a	n/a
12	CUX1	chr4:48901199-48902271	K562	blood:	n/a	n/a
13	FOS	chr4:48902024-48902290	MCF10A-Er-Src	breast:	n/a	n/a
14	RCOR1	chr4:48901632-48902402	K562	blood:	n/a	n/a
15	GATA3	chr4:48901030-48902440	SK-N-SH	brain:	n/a	chr4:48901329-48901339
16	UBTF	chr4:48902048-48902328	K562	blood:	n/a	n/a
17	POLR2A	chr4:48902061-48902364	MCF-7	breast:	n/a	n/a
18	FOS	chr4:48901987-48902297	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr4:48902024-48902276	K562	blood:	n/a	n/a
20	JUND	chr4:48901921-48902355	K562	blood:	n/a	n/a
21	STAT3	chr4:48902188-48902248	MCF10A-Er-Src	breast:	n/a	n/a
22	BHLHE40	chr4:48902047-48902312	K562	blood:	n/a	n/a
23	FOS	chr4:48902090-48902290	MCF10A-Er-Src	breast:	n/a	n/a
24	HDAC2	chr4:48901967-48902377	K562	blood:	n/a	n/a
25	TEAD4	chr4:48901819-48902479	K562	blood:	n/a	n/a
26	KAP1	chr4:48901656-48902275	U2OS	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48900749..48905906-chr4:48906266..48908973,4	MCF-7	breast:
2	chr4:48900712..48903360-chr4:48904999..48906836,2	K562	blood:
3	chr4:48833316..48835209-chr4:48900334..48902659,3	K562	blood:
4	chr4:48892295..48895717-chr4:48900323..48903334,3	MCF-7	breast:

No data

Variant related genes	Relation type
OCIAD2	TF binding region
ENSG00000109180	Chromatin interaction
ENSG00000145247	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs55909053	1.00[AFR][1000 genomes]
rs55948409	1.00[AFR][1000 genomes]
rs56013049	1.00[AFR][1000 genomes]
rs56077860	1.00[AFR][1000 genomes]
rs56196120	1.00[AFR][1000 genomes]
rs56229581	1.00[AFR][1000 genomes]
rs56393041	1.00[AFR][1000 genomes]
rs56784253	1.00[AFR][1000 genomes]
rs58706281	1.00[AFR][1000 genomes]
rs59582819	1.00[AFR][1000 genomes]
rs61152134	1.00[AFR][1000 genomes]
rs6447671	1.00[AFR][1000 genomes]
rs6447672	1.00[AFR][1000 genomes]
rs6447673	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6815745	1.00[AFR][1000 genomes]
rs6825895	1.00[YRI][hapmap]
rs6829709	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6842198	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6842954	1.00[AFR][1000 genomes]
rs6843280	1.00[YRI][hapmap]
rs6844156	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6849135	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6850227	1.00[AFR][1000 genomes]
rs6850983	1.00[AFR][1000 genomes]
rs6857526	1.00[AFR][1000 genomes]
rs6857571	1.00[AFR][1000 genomes]
rs73815328	1.00[AFR][1000 genomes]
rs73815329	1.00[AFR][1000 genomes]
rs73815333	1.00[AFR][1000 genomes]
rs73815337	1.00[AFR][1000 genomes]
rs73815371	1.00[AFR][1000 genomes]
rs73815373	1.00[AFR][1000 genomes]
rs73815393	1.00[AFR][1000 genomes]
rs73815397	1.00[AFR][1000 genomes]
rs73815399	1.00[AFR][1000 genomes]
rs73817712	1.00[AFR][1000 genomes]
rs73817713	1.00[AFR][1000 genomes]
rs73817714	1.00[AFR][1000 genomes]
rs73817715	0.83[AFR][1000 genomes]
rs73817717	1.00[AFR][1000 genomes]
rs73817719	1.00[AFR][1000 genomes]
rs73817721	1.00[AFR][1000 genomes]
rs73817723	1.00[AFR][1000 genomes]
rs73817726	1.00[AFR][1000 genomes]
rs73817729	1.00[AFR][1000 genomes]
rs73817741	1.00[AFR][1000 genomes]
rs73817742	1.00[AFR][1000 genomes]
rs7658876	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7674901	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7676916	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7684655	1.00[AFR][1000 genomes]
rs7695125	1.00[AFR][1000 genomes]
rs7700082	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7700186	1.00[AFR][1000 genomes]
rs9685193	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer 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	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48879400-48907800	Weak transcription	Right Ventricle	heart
2	chr4:48887200-48904200	Weak transcription	Esophagus	oesophagus
3	chr4:48887800-48903800	Weak transcription	Placenta	Placenta
4	chr4:48890600-48906200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:48891000-48904200	Weak transcription	Spleen	Spleen
6	chr4:48891200-48902800	Weak transcription	Fetal Kidney	kidney
7	chr4:48891200-48907800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:48891200-48907800	Weak transcription	Fetal Lung	lung
9	chr4:48891400-48907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:48891600-48903000	Weak transcription	Hela-S3	cervix
11	chr4:48891800-48904600	Strong transcription	Liver	Liver
12	chr4:48892000-48905400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr4:48892200-48906600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:48892200-48907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:48892400-48903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:48892400-48906800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:48892600-48906800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr4:48892800-48907000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:48893000-48906800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:48893200-48908000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:48893400-48904400	Weak transcription	Lung	lung
22	chr4:48893400-48905200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr4:48893600-48903200	Weak transcription	Stomach Mucosa	stomach
24	chr4:48893800-48907800	Weak transcription	Adipose Nuclei	Adipose
25	chr4:48894000-48907800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:48895000-48908000	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:48895400-48904200	Weak transcription	Left Ventricle	heart
28	chr4:48895400-48905000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:48895800-48906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:48896400-48906400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:48896800-48906800	Strong transcription	Fetal Intestine Large	intestine
32	chr4:48897000-48907000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:48897800-48904200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:48897800-48906200	Weak transcription	Fetal Brain Male	brain
35	chr4:48897800-48908000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:48898200-48902400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:48898600-48904400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:48898600-48905400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:48899400-48904200	Weak transcription	Ovary	ovary
40	chr4:48899400-48907600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:48899600-48902600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:48899600-48903600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:48899600-48904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:48899600-48907000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:48899600-48907800	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:48899800-48908000	Weak transcription	Small Intestine	intestine
47	chr4:48900000-48903800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:48900600-48903200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:48900600-48903400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr4:48900600-48905000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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