Variant report

Variant	rs35139996
Chromosome Location	chr4:8017401-8017402
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	CTCF	chr4:8017340-8017490	GM12872	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
2	RAD21	chr4:8017170-8017616	MCF-7	breast:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
3	CTCF	chr4:8017280-8017635	GM12878	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
4	CTCF	chr4:8017322-8017581	Gliobla	brain:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
5	CTCF	chr4:8017280-8017430	WI-38	lung:	n/a	n/a
6	CTCF	chr4:8017195-8017813	A549	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
7	CTCF	chr4:8017380-8017530	RPTEC	kidney:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
8	CTCF	chr4:8017307-8017615	A549	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
9	RAD21	chr4:8017183-8017586	A549	lung:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
10	CTCF	chr4:8017365-8017581	K562	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
11	CTCF	chr4:8017400-8017550	BE2_C	brain:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
12	RAD21	chr4:8017305-8017578	HepG2	liver:	n/a	chr4:8017393-8017407 chr4:8017449-8017468
13	CTCF	chr4:8017380-8017530	HFF	foreskin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
14	CTCF	chr4:8017382-8017543	GM13977	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
15	CTCF	chr4:8017321-8017543	MCF-7	breast:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
16	CTCF	chr4:8017360-8017510	GM12865	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
17	CTCF	chr4:8017380-8017530	HCT-116	colon:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
18	RAD21	chr4:8017184-8017614	IMR90	lung:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
19	CTCF	chr4:8017380-8017530	AG10803	skin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
20	CTCF	chr4:8017328-8017555	SK-N-SH_RA	brain:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
21	CTCF	chr4:8017387-8017556	LNCaP	prostate:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
22	CTCF	chr4:8017360-8017510	HEK293	kidney:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
23	RAD21	chr4:8017084-8017684	HCT-116	colon:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
24	CTCF	chr4:8017400-8017550	GM12873	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
25	CTCF	chr4:8017347-8017568	Hela-S3	cervix:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
26	CTCF	chr4:8017360-8017541	HUVEC	blood vessel:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
27	CTCF	chr4:8017391-8017545	Pancreas_OC	pancreas:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
28	CTCF	chr4:8017268-8017578	K562	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
29	CTCF	chr4:8017380-8017530	HPF	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
30	CTCF	chr4:8017360-8017510	HepG2	liver:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
31	CTCF	chr4:8017320-8017548	GM12892	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
32	RAD21	chr4:8017271-8017555	HepG2	liver:	n/a	chr4:8017393-8017407 chr4:8017449-8017468
33	CTCF	chr4:8017320-8017470	BJ	skin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
34	RAD21	chr4:8017301-8017594	A549	lung:	n/a	chr4:8017393-8017407 chr4:8017449-8017468
35	CTCF	chr4:8017380-8017530	GM12865	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
36	CTCF	chr4:8017267-8017613	K562	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
37	CTCF	chr4:8017263-8017620	IMR90	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
38	CTCF	chr4:8017400-8017550	HCPEpiC	choroid plexus:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
39	SMC3	chr4:8017293-8017592	Hela-S3	cervix:	n/a	chr4:8017460-8017467 chr4:8017394-8017404 chr4:8017453-8017467
40	CTCF	chr4:8017380-8017530	GM12873	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
41	CTCF	chr4:8017360-8017510	GM12869	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
42	CTCF	chr4:8017360-8017510	K562	blood:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
43	RAD21	chr4:8017211-8017595	ECC-1	luminal epithelium:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
44	CTCF	chr4:8017360-8017510	HRPEpiC	eye:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
45	CTCF	chr4:8017380-8017530	HEK293	kidney:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
46	CTCF	chr4:8017400-8017550	WERI-Rb-1	eye:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
47	CTCF	chr4:8017380-8017530	A549	lung:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
48	RAD21	chr4:8017238-8017585	H1-hESC	embryonic stem cell:	n/a	chr4:8017393-8017407 chr4:8017449-8017468 chr4:8017256-8017263
49	CTCF	chr4:8017380-8017530	AG09309	skin:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469
50	CTCF	chr4:8017400-8017550	SAEC	small airway:	n/a	chr4:8017452-8017468 chr4:8017454-8017464 chr4:8017446-8017467 chr4:8017451-8017469

Variant related genes	Relation type
ABLIM2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17795113	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34327175	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34477140	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56261879	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8007200-8018000	Weak transcription	Psoas Muscle	Psoas
2	chr4:8007800-8022000	Weak transcription	Esophagus	oesophagus
3	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
4	chr4:8011200-8018200	Weak transcription	Spleen	Spleen
5	chr4:8012400-8039000	Weak transcription	Gastric	stomach
6	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
7	chr4:8013000-8020600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:8013000-8021400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
10	chr4:8013200-8018200	Weak transcription	Fetal Intestine Large	intestine
11	chr4:8013200-8020400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:8013200-8020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:8015400-8018000	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
16	chr4:8016600-8021600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:8017000-8017600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:8017000-8017600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:8017200-8017600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:8017200-8017600	Bivalent/Poised TSS	NHDF-Ad	bronchial
21	chr4:8017400-8017600	Active TSS	Stomach Smooth Muscle	stomach
22	chr4:8017400-8018200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:8017400-8018400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:8017400-8018400	Weak transcription	Fetal Heart	heart
25	chr4:8017400-8020200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:8017400-8020400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:8017400-8020800	Weak transcription	Brain Anterior Caudate	brain
28	chr4:8017400-8040400	Weak transcription	Right Atrium	heart

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