Variant report

Variant	rs34806211
Chromosome Location	chr4:110481245-110481246
allele	G/T
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	POLR2A	chr4:110481023-110481641	HCT-116	colon:	n/a	n/a
2	POLR2A	chr4:110481107-110481642	Hela-S3	cervix:	n/a	n/a
3	MAX	chr4:110480859-110481892	MCF-7	breast:	n/a	chr4:110481630-110481639
4	POLR2A	chr4:110480900-110481752	HUVEC	blood vessel:	n/a	n/a
5	E2F6	chr4:110480943-110481843	K562	blood:	n/a	chr4:110481657-110481665 chr4:110481657-110481665 chr4:110481656-110481666 chr4:110481387-110481398 chr4:110481657-110481664 chr4:110481656-110481667 chr4:110481657-110481668
6	POLR2A	chr4:110481059-110481540	GM12891	blood:	n/a	n/a
7	POLR2A	chr4:110480977-110481578	H1-neurons	neurons:	n/a	n/a
8	TBP	chr4:110480799-110482172	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:110480787-110482527	GM18505	blood:	n/a	n/a
10	TBP	chr4:110481191-110481490	K562	blood:	n/a	n/a
11	ZNF263	chr4:110480861-110482778	HEK293-T-REx	kidney:	n/a	n/a
12	MAX	chr4:110481035-110481594	K562	blood:	n/a	n/a
13	POLR2A	chr4:110480678-110482693	GM12891	blood:	n/a	n/a
14	HMGN3	chr4:110480861-110481938	K562	blood:	n/a	n/a
15	WRNIP1	chr4:110481146-110481320	GM12878	blood:	n/a	n/a
16	MAX	chr4:110480705-110482377	A549	lung:	n/a	chr4:110481630-110481639
17	MAX	chr4:110480920-110482381	Hela-S3	cervix:	n/a	chr4:110481630-110481639
18	POLR2A	chr4:110480878-110482462	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr4:110481214-110481782	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr4:110481026-110481931	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:110480932-110482583	Raji	blood:	n/a	n/a
22	CREB1	chr4:110480937-110481655	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr4:110480732-110482650	MCF-7	breast:	n/a	n/a
24	POLR2A	chr4:110480841-110482537	GM15510	blood:	n/a	n/a
25	KAP1	chr4:110480985-110481757	HEK293	kidney:	n/a	n/a
26	POLR2A	chr4:110480805-110482051	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:110480744-110481781	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr4:110480995-110481637	U87	brain:	n/a	n/a
29	BCLAF1	chr4:110480936-110481661	GM12878	blood:	n/a	n/a
30	MYC	chr4:110480714-110481649	MCF10A-Er-Src	breast:	n/a	chr4:110481630-110481639
31	MAX	chr4:110480805-110481904	HepG2	liver:	n/a	chr4:110481630-110481639
32	NFIC	chr4:110480910-110481464	GM12878	blood:	n/a	chr4:110480932-110480960
33	GABPA	chr4:110481111-110481426	K562	blood:	n/a	n/a
34	POLR2A	chr4:110480962-110481631	H1-neurons	neurons:	n/a	n/a
35	YY1	chr4:110481238-110481541	K562	blood:	n/a	n/a
36	ELF1	chr4:110481158-110481512	K562	blood:	n/a	n/a
37	POLR2A	chr4:110481087-110481598	K562	blood:	n/a	n/a
38	POLR2A	chr4:110481186-110481614	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr4:110481166-110481683	GM12891	blood:	n/a	n/a
40	FOXP2	chr4:110480956-110481570	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr4:110480833-110482610	PBDE	blood:	n/a	n/a
42	SIN3AK20	chr4:110480970-110481673	SK-N-SH	brain:	n/a	n/a
43	SIN3AK20	chr4:110481089-110481736	PANC-1	pancreas:	n/a	n/a
44	MAX	chr4:110481186-110481559	K562	blood:	n/a	n/a
45	SIN3A	chr4:110480811-110482609	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr4:110480858-110482051	H1-hESC	embryonic stem cell:	n/a	chr4:110481630-110481639
47	HDAC2	chr4:110480954-110481597	MCF-7	breast:	n/a	chr4:110481248-110481262 chr4:110481252-110481266 chr4:110481250-110481264 chr4:110481251-110481265 chr4:110481246-110481260 chr4:110481253-110481267 chr4:110481249-110481263
48	RELA	chr4:110480841-110481689	GM15510	blood:	n/a	n/a
49	POLR2A	chr4:110481098-110481661	A549	lung:	n/a	n/a
50	E2F4	chr4:110481042-110481670	MCF10A-Er-Src	breast:	n/a	chr4:110481657-110481665 chr4:110481657-110481665 chr4:110481656-110481666 chr4:110481657-110481664 chr4:110481656-110481667 chr4:110481657-110481668

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110476046..110478295-chr4:110480003..110482074,2	MCF-7	breast:
2	chr4:110353323..110356452-chr4:110478874..110481567,4	MCF-7	breast:

Variant related genes	Relation type
CCDC109B	TF binding region
ENSG00000138802	Chromatin interaction
ENSG00000249965	Chromatin interaction
ENSG00000247950	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10021722	0.86[EUR][1000 genomes]
rs11944637	0.81[EUR][1000 genomes]
rs13131088	0.86[EUR][1000 genomes]
rs13147439	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110456400-110481600	Weak transcription	Fetal Heart	heart
2	chr4:110480200-110482600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:110480400-110481400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr4:110480400-110481400	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:110480400-110482000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:110480400-110482400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:110480400-110482600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:110480400-110482600	Active TSS	GM12878-XiMat	blood
9	chr4:110480400-110482800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:110480400-110482800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr4:110480400-110483200	Active TSS	NHDF-Ad	bronchial
12	chr4:110480600-110481600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:110480600-110481600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
14	chr4:110480600-110481800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:110480600-110482000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr4:110480600-110482200	Active TSS	Primary T cells from cord blood	blood
17	chr4:110480600-110482200	Active TSS	Duodenum Mucosa	Duodenum
18	chr4:110480600-110482200	Active TSS	Placenta	Placenta
19	chr4:110480600-110482200	Active TSS	Fetal Stomach	stomach
20	chr4:110480600-110482200	Active TSS	Rectal Smooth Muscle	rectum
21	chr4:110480600-110482200	Active TSS	HMEC	breast
22	chr4:110480600-110482200	Active TSS	NH-A	brain
23	chr4:110480600-110482400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:110480600-110482400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:110480600-110482400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:110480600-110482400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:110480600-110482400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:110480600-110482400	Active TSS	Osteobl	bone
29	chr4:110480600-110482600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr4:110480600-110482600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:110480600-110482600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:110480600-110482600	Active TSS	Brain Cingulate Gyrus	brain
33	chr4:110480600-110482600	Active TSS	Brain Germinal Matrix	brain
34	chr4:110480600-110482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:110480600-110482600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr4:110480600-110482600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr4:110480600-110482600	Active TSS	A549	lung
38	chr4:110480600-110482800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:110480600-110482800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr4:110480600-110482800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr4:110480600-110482800	Active TSS	Right Atrium	heart
42	chr4:110480600-110482800	Active TSS	HSMM	muscle
43	chr4:110480600-110483000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:110480600-110483000	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr4:110480600-110483000	Active TSS	Thymus	Thymus
46	chr4:110480600-110483000	Active TSS	Hela-S3	cervix
47	chr4:110480600-110483200	Active TSS	NHLF	lung
48	chr4:110480800-110481400	Active TSS	HepG2	liver
49	chr4:110480800-110481600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr4:110480800-110481600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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