Variant report

Variant	rs73073923
Chromosome Location	chr4:7878564-7878565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:7877756-7878680	IMR90	lung:	n/a	n/a
2	CTCF	chr4:7878460-7878610	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr4:7878560-7878710	HCM	heart:	n/a	n/a
4	CTCF	chr4:7878517-7878604	GM13977	blood:	n/a	n/a
5	CTCF	chr4:7877560-7878983	A549	lung:	n/a	n/a
6	RAD21	chr4:7878362-7878623	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr4:7878492-7878624	HUVEC	blood vessel:	n/a	n/a
8	SMC3	chr4:7877581-7878779	SK-N-SH	brain:	n/a	n/a
9	MYC	chr4:7877679-7878652	A549	lung:	n/a	n/a
10	CTCF	chr4:7878480-7878630	HPF	lung:	n/a	n/a
11	CTCF	chr4:7878420-7878570	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr4:7878540-7878690	HVMF	connective:	n/a	n/a
13	CTCF	chr4:7878420-7878570	AG04450	lung:	n/a	n/a
14	CTCF	chr4:7878460-7878610	AG04449	skin:	n/a	n/a
15	CTCF	chr4:7878460-7878610	HPF	lung:	n/a	n/a
16	RAD21	chr4:7878395-7878656	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr4:7878500-7878650	HAc	cerebellar:	n/a	n/a
18	CTCF	chr4:7878420-7878570	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr4:7878460-7878610	AG10803	skin:	n/a	n/a
20	CTCF	chr4:7878480-7878630	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr4:7878440-7878590	AG09319	gingival:	n/a	n/a
22	CTCF	chr4:7878540-7878690	AG09319	gingival:	n/a	n/a
23	CTCF	chr4:7878420-7878570	HMF	breast:	n/a	n/a
24	CTCF	chr4:7878540-7878690	HRE	kidney:	n/a	n/a
25	CTCF	chr4:7878500-7878650	AG10803	skin:	n/a	n/a
26	CTCF	chr4:7878480-7878630	Caco-2	colon:	n/a	n/a
27	CTCF	chr4:7878460-7878610	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr4:7878480-7878630	HFF	foreskin:	n/a	n/a
29	MAX	chr4:7877617-7878631	A549	lung:	n/a	n/a
30	CTCF	chr4:7878440-7878590	BE2_C	brain:	n/a	n/a
31	CTCF	chr4:7878500-7878650	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr4:7878440-7878590	AG04449	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7877287..7878806-chr4:7930542..7931312,4	MCF-7	breast:
2	chr4:7877407..7880268-chr4:7886566..7889549,2	MCF-7	breast:

No data

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10213406	0.85[ASN][1000 genomes]
rs28658400	0.93[ASN][1000 genomes]
rs56663055	1.00[ASN][1000 genomes]
rs56943746	0.85[ASN][1000 genomes]
rs58893476	1.00[ASN][1000 genomes]
rs61601120	0.85[ASN][1000 genomes]
rs73073913	1.00[ASN][1000 genomes]
rs73073928	0.93[ASN][1000 genomes]
rs73073931	1.00[ASN][1000 genomes]
rs73073932	1.00[ASN][1000 genomes]
rs73073935	1.00[ASN][1000 genomes]
rs73073948	0.85[ASN][1000 genomes]
rs73073953	0.85[ASN][1000 genomes]
rs73086500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086501	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088504	1.00[ASN][1000 genomes]
rs73088575	0.93[ASN][1000 genomes]
rs73088582	1.00[ASN][1000 genomes]
rs73088596	1.00[ASN][1000 genomes]
rs73090504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090510	1.00[ASN][1000 genomes]
rs73090524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7866000-7882400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:7866000-7885600	Weak transcription	Esophagus	oesophagus
4	chr4:7869200-7880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7870400-7879200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:7870400-7882400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:7873400-7878800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:7873400-7879000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:7873400-7880000	Weak transcription	Lung	lung
10	chr4:7873400-7883000	Weak transcription	Right Ventricle	heart
11	chr4:7873600-7894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7874400-7878600	Weak transcription	Fetal Brain Female	brain
13	chr4:7874400-7880200	Weak transcription	Gastric	stomach
14	chr4:7874400-7880200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:7874400-7880800	Weak transcription	Pancreas	Pancrea
16	chr4:7874600-7878600	Weak transcription	Fetal Brain Male	brain
17	chr4:7874600-7879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:7874600-7880000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:7874600-7881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:7874600-7887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:7874600-7892800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:7874600-7894000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:7875800-7881000	Weak transcription	Stomach Mucosa	stomach
24	chr4:7876000-7878800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:7876000-7879200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:7876000-7880400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:7876000-7891800	Weak transcription	Hela-S3	cervix
28	chr4:7876800-7880200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:7876800-7881800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:7876800-7885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:7877000-7879600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:7877000-7883200	Enhancers	Colon Smooth Muscle	Colon
33	chr4:7877200-7879800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr4:7877400-7883200	Enhancers	Fetal Heart	heart
35	chr4:7877400-7885000	Enhancers	NH-A	brain
36	chr4:7877600-7879400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:7877600-7879800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr4:7877600-7879800	Enhancers	NHDF-Ad	bronchial
39	chr4:7877800-7879200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr4:7877800-7879200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr4:7877800-7879200	Enhancers	NHLF	lung
42	chr4:7877800-7879400	Enhancers	HMEC	breast
43	chr4:7877800-7879600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr4:7877800-7879600	Enhancers	Osteobl	bone
45	chr4:7877800-7881400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:7877800-7883200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:7877800-7883200	Enhancers	Fetal Stomach	stomach
48	chr4:7877800-7883200	Enhancers	Ovary	ovary
49	chr4:7877800-7883200	Enhancers	HSMM	muscle
50	chr4:7877800-7883400	Enhancers	Fetal Muscle Leg	muscle

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