Variant report

Variant	rs11939101
Chromosome Location	chr4:7106071-7106072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7104839-7106126	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:7103692-7106337	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7106023-7106073	MCF-7	breast:	n/a
2	chr4:7106023-7106073	HNPCEpiC	eye:	n/a
3	chr4:7106023-7106073	GM19239	blood:	n/a
4	chr4:7106023-7106073	HCT-116	colon:	n/a
5	chr4:7106023-7106073	LNCaP	prostate:	n/a
6	chr4:7106023-7106073	HCM	heart:	n/a
7	chr4:7106023-7106073	HEK293	kidney:	embryo
8	chr4:7106023-7106073	HEEpiC	esophagus:	n/a
9	chr4:7106023-7106073	NB4	blood:	n/a
10	chr4:7106023-7106073	U87	brain:	n/a
11	chr4:7106023-7106073	HMEC	breast:	n/a
12	chr4:7106023-7106073	Hepatocyte	liver:	n/a
13	chr4:7106023-7106073	H1-hESC	embryonic stem cell:	embryo
14	chr4:7106023-7106073	GM12878	blood:	n/a
15	chr4:7106023-7106073	SK-N-SH	brain:	n/a
16	chr4:7106023-7106073	RPTEC	kidney:	n/a
17	chr4:7106023-7106073	BJ	skin:	n/a
18	chr4:7106023-7106073	A549	lung:	n/a
19	chr4:7106023-7106073	SK-N-SH_RA	brain:	n/a
20	chr4:7106023-7106073	GM06990	blood:	n/a
21	chr4:7106023-7106073	SKMC	muscle:	n/a
22	chr4:7106023-7106073	HAEpiC	amniotic membrane:	n/a
23	chr4:7106023-7106073	AG09319	gingival:	n/a
24	chr4:7106023-7106073	NHDF-neo	bronchial:	n/a
25	chr4:7106023-7106073	HUVEC	blood vessel:	n/a
26	chr4:7106023-7106073	Jurkat	blood:	n/a
27	chr4:7106023-7106073	AG04449	skin:	fetal
28	chr4:7106023-7106073	HRE	kidney:	n/a
29	chr4:7106023-7106073	ovcar-3	ovarian:	n/a
30	chr4:7106023-7106073	HRPEpiC	eye:	n/a
31	chr4:7106023-7106073	ECC-1	luminal epithelium:	n/a
32	chr4:7106023-7106073	HIPEpiC	eye:	n/a
33	chr4:7106023-7106073	Hela-S3	cervix:	n/a
34	chr4:7106023-7106073	BE2_C	brain:	n/a
35	chr4:7106023-7106073	HepG2	liver:	n/a
36	chr4:7106023-7106073	SK-N-MC	brain:	n/a
37	chr4:7106023-7106073	NT2-D1	testis:	n/a
38	chr4:7106023-7106073	AG04450	lung:	fetal
39	chr4:7106023-7106073	Caco-2	colon:	n/a
40	chr4:7106023-7106073	AoSMC	blood vessel:	n/a
41	chr4:7106023-7106073	PrEC	prostate:	n/a
42	chr4:7106023-7106073	HCF	heart:	n/a
43	chr4:7106023-7106073	HPAEpiC	pulmonary alveolar:	n/a
44	chr4:7106023-7106073	CMK	blood:	n/a
45	chr4:7106023-7106073	AG10803	skin:	n/a
46	chr4:7106023-7106073	HRCEpiC	kidney:	n/a
47	chr4:7106023-7106073	IMR90	lung:	fetal
48	chr4:7106023-7106073	AG09309	skin:	n/a
49	chr4:7106023-7106073	K562	blood:	n/a
50	chr4:7106023-7106073	HL-60	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7105423..7108283-chr4:7118442..7120103,2	MCF-7	breast:
2	chr4:7103913..7106622-chr4:7111535..7115141,3	K562	blood:
3	chr4:7105809..7107677-chr4:7109830..7111435,2	K562	blood:
4	chr4:7105147..7106911-chr4:7141540..7143652,2	K562	blood:
5	chr4:7077408..7080531-chr4:7105216..7108085,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245468	TF binding region
ENSG00000245468	CpG island
ENSG00000200867	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10440167	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10516183	0.81[EUR][1000 genomes]
rs11930240	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935906	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11939020	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642809	0.81[EUR][1000 genomes]
rs35322113	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4082843	0.82[EUR][1000 genomes]
rs57515712	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60841350	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73202188	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878534	chr4:7084985-7121880	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv878535	chr4:7093834-7135912	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461191	chr4:7102597-7129001	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv878536	chr4:7102597-7142868	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878537	chr4:7102597-7153642	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv878538	chr4:7102597-7158467	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7103600-7106200	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr4:7104400-7106200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr4:7105200-7106800	Enhancers	Spleen	Spleen
4	chr4:7105400-7106200	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr4:7105400-7106400	Flanking Active TSS	HepG2	liver
6	chr4:7105600-7106200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7105600-7106200	Enhancers	Fetal Lung	lung
8	chr4:7105600-7106200	Bivalent Enhancer	Placenta	Placenta
9	chr4:7105600-7106200	Enhancers	Stomach Mucosa	stomach
10	chr4:7105600-7106400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:7105600-7106600	Enhancers	Pancreas	Pancrea
12	chr4:7105600-7106800	Enhancers	Gastric	stomach
13	chr4:7105600-7109200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:7105800-7106200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:7105800-7106200	Enhancers	Liver	Liver
16	chr4:7105800-7106200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr4:7105800-7106200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:7105800-7106400	Enhancers	Fetal Muscle Leg	muscle
19	chr4:7105800-7106400	Bivalent Enhancer	Fetal Stomach	stomach
20	chr4:7105800-7111000	Weak transcription	Right Ventricle	heart
21	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
22	chr4:7106000-7106200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:7106000-7106200	Enhancers	Brain Angular Gyrus	brain
24	chr4:7106000-7106200	Enhancers	Brain Hippocampus Middle	brain
25	chr4:7106000-7106200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr4:7106000-7106200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:7106000-7106200	Enhancers	Brain Substantia Nigra	brain
28	chr4:7106000-7106200	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:7106000-7106400	Enhancers	Colonic Mucosa	Colon
30	chr4:7106000-7106400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr4:7106000-7106400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:7106000-7106600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:7106000-7107200	Weak transcription	K562	blood
34	chr4:7106000-7107400	Enhancers	Fetal Intestine Large	intestine
35	chr4:7106000-7107600	Enhancers	Fetal Intestine Small	intestine

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