Variant report

Variant	rs7676916
Chromosome Location	chr4:48901878-48901879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr4:48901775-48902289	K562	blood:	n/a	n/a
2	CUX1	chr4:48901199-48902271	K562	blood:	n/a	n/a
3	RCOR1	chr4:48901632-48902402	K562	blood:	n/a	n/a
4	GATA3	chr4:48901030-48902440	SK-N-SH	brain:	n/a	chr4:48901329-48901339
5	TEAD4	chr4:48901819-48902479	K562	blood:	n/a	n/a
6	KAP1	chr4:48901656-48902275	U2OS	brain:	n/a	n/a

No data

(count:5 , 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	chr4:48899884..48901909-chr4:48907082..48908942,2	MCF-7	breast:
4	chr4:48833316..48835209-chr4:48900334..48902659,3	K562	blood:
5	chr4:48892295..48895717-chr4:48900323..48903334,3	MCF-7	breast:

No data

Variant related genes	Relation type
OCIAD2	TF binding region
ENSG00000145247	Chromatin interaction
ENSG00000109180	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[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[YRI][hapmap];1.00[AFR][1000 genomes]
rs6849135	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[YRI][hapmap];1.00[AFR][1000 genomes]
rs7674901	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7682222	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:113 , 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	chr4:48891200-48902000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:48891200-48902800	Weak transcription	Fetal Kidney	kidney
8	chr4:48891200-48907800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:48891200-48907800	Weak transcription	Fetal Lung	lung
10	chr4:48891400-48902000	Weak transcription	Colonic Mucosa	Colon
11	chr4:48891400-48907800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:48891600-48903000	Weak transcription	Hela-S3	cervix
13	chr4:48891800-48904600	Strong transcription	Liver	Liver
14	chr4:48892000-48902000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:48892000-48905400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr4:48892200-48906600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:48892200-48907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:48892400-48903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:48892400-48906800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:48892600-48906800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr4:48892800-48907000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:48893000-48906800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:48893200-48908000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:48893400-48904400	Weak transcription	Lung	lung
25	chr4:48893400-48905200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr4:48893600-48903200	Weak transcription	Stomach Mucosa	stomach
27	chr4:48893800-48907800	Weak transcription	Adipose Nuclei	Adipose
28	chr4:48894000-48907800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:48895000-48908000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:48895400-48904200	Weak transcription	Left Ventricle	heart
31	chr4:48895400-48905000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:48895800-48906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:48896400-48906400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:48896800-48906800	Strong transcription	Fetal Intestine Large	intestine
35	chr4:48897000-48907000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:48897800-48904200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:48897800-48906200	Weak transcription	Fetal Brain Male	brain
38	chr4:48897800-48908000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:48898200-48902400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:48898600-48904400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr4:48898600-48905400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:48899400-48902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:48899400-48902000	Weak transcription	Aorta	Aorta
44	chr4:48899400-48904200	Weak transcription	Ovary	ovary
45	chr4:48899400-48907600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:48899600-48902000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:48899600-48902000	Weak transcription	Fetal Intestine Small	intestine
48	chr4:48899600-48902000	Weak transcription	Fetal Stomach	stomach
49	chr4:48899600-48902600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:48899600-48903600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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