Variant report

Variant	rs4982404
Chromosome Location	chr14:21539684-21539685
allele	C/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	chr14:21539639-21539936	K562	blood:	n/a	n/a
2	ZBTB7A	chr14:21539598-21539917	HepG2	liver:	n/a	n/a
3	STAT5A	chr14:21539450-21539743	GM12878	blood:	n/a	chr14:21539567-21539579 chr14:21539665-21539677 chr14:21539647-21539658
4	POLR2A	chr14:21539213-21540032	ProgFib	skin:	n/a	n/a
5	E2F6	chr14:21539671-21539910	K562	blood:	n/a	chr14:21539709-21539718 chr14:21539736-21539748 chr14:21539743-21539752
6	MAZ	chr14:21539313-21540144	GM12878	blood:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
7	HDAC2	chr14:21537416-21539971	HepG2	liver:	n/a	n/a
8	MTA3	chr14:21539331-21540089	GM12878	blood:	n/a	n/a
9	FOXP2	chr14:21539655-21540029	PFSK-1	brain:	n/a	n/a
10	CTCF	chr14:21539560-21539710	HRPEpiC	eye:	n/a	chr14:21539622-21539635
11	CTCF	chr14:21539680-21539830	HCPEpiC	choroid plexus:	n/a	chr14:21539711-21539724 chr14:21539714-21539727
12	EBF1	chr14:21539352-21539701	GM12878	blood:	n/a	n/a
13	HEY1	chr14:21539223-21539723	HepG2	liver:	n/a	n/a
14	SPI1	chr14:21539513-21539757	GM12878	blood:	n/a	chr14:21539653-21539666 chr14:21539652-21539665 chr14:21539655-21539664 chr14:21539652-21539665
15	CHD2	chr14:21539434-21539995	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB7A	chr14:21537683-21540277	ECC-1	luminal epithelium:	n/a	chr14:21538613-21538621 chr14:21538061-21538068
17	ZBTB7A	chr14:21539638-21540056	K562	blood:	n/a	n/a
18	CTCF	chr14:21539665-21539685	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr14:21539640-21539790	HUVEC	blood vessel:	n/a	chr14:21539711-21539724 chr14:21539714-21539727
20	POLR2A	chr14:21539532-21539749	A549	lung:	n/a	n/a
21	SPI1	chr14:21539475-21539851	GM12891	blood:	n/a	chr14:21539653-21539666 chr14:21539652-21539665 chr14:21539655-21539664 chr14:21539652-21539665
22	REST	chr14:21536555-21540236	H1-neurons	neurons:	n/a	chr14:21537270-21537288 chr14:21538446-21538455 chr14:21539665-21539678 chr14:21537275-21537288 chr14:21538419-21538432 chr14:21537085-21537098
23	REST	chr14:21539643-21539976	SK-N-SH	brain:	n/a	chr14:21539665-21539678
24	ZBTB7A	chr14:21539606-21539922	K562	blood:	n/a	n/a
25	EGR1	chr14:21539384-21540082	H1-hESC	embryonic stem cell:	n/a	chr14:21539913-21539922 chr14:21539940-21539949 chr14:21539936-21539950 chr14:21539940-21539950 chr14:21539912-21539925 chr14:21539939-21539952 chr14:21539909-21539923 chr14:21539939-21539952 chr14:21539745-21539755 chr14:21539938-21539952 chr14:21539993-21540006 chr14:21539940-21539950
26	SPI1	chr14:21539370-21539891	GM12891	blood:	n/a	chr14:21539653-21539666 chr14:21539652-21539665 chr14:21539655-21539664 chr14:21539652-21539665
27	CTCF	chr14:21539560-21539710	HMF	breast:	n/a	chr14:21539622-21539635
28	MAZ	chr14:21539417-21539878	HepG2	liver:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
29	EP300	chr14:21539590-21540012	SK-N-SH_RA	brain:	n/a	chr14:21539654-21539668 chr14:21539648-21539662
30	SIN3AK20	chr14:21539392-21540017	SK-N-SH	brain:	n/a	n/a
31	REST	chr14:21539637-21540079	SK-N-SH	brain:	n/a	chr14:21539665-21539678
32	TCF12	chr14:21539310-21540178	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:21538876-21540019	HepG2	liver:	n/a	n/a
34	MAZ	chr14:21539500-21540069	K562	blood:	n/a	chr14:21539744-21539754
35	CTCF	chr14:21539620-21539770	HA-sp	spinal cord:	n/a	chr14:21539622-21539635 chr14:21539711-21539724 chr14:21539714-21539727
36	MAFK	chr14:21538989-21540584	IMR90	lung:	n/a	n/a
37	REST	chr14:21539523-21539782	Hela-S3	cervix:	n/a	chr14:21539665-21539678
38	CTCF	chr14:21539620-21539770	HepG2	liver:	n/a	chr14:21539622-21539635 chr14:21539711-21539724 chr14:21539714-21539727
39	POLR2A	chr14:21539087-21540007	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr14:21539491-21540045	Raji	blood:	n/a	n/a
41	POLR2A	chr14:21539056-21540673	U87	brain:	n/a	n/a
42	POLR2A	chr14:21539662-21539968	HUVEC	blood vessel:	n/a	n/a
43	RAD21	chr14:21539442-21539930	HepG2	liver:	n/a	chr14:21539711-21539725
44	MAX	chr14:21538706-21540096	NB4	blood:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
45	POLR2A	chr14:21539643-21539950	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr14:21539660-21539810	AG04449	skin:	n/a	chr14:21539711-21539724 chr14:21539714-21539727
47	CTCF	chr14:21539608-21539742	Spleen_OC	spleen:	n/a	chr14:21539622-21539635 chr14:21539711-21539724 chr14:21539714-21539727
48	TCF12	chr14:21538626-21540618	SK-N-SH	brain:	n/a	n/a
49	MAX	chr14:21539029-21540077	A549	lung:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
50	CTCF	chr14:21539620-21539770	AG04450	lung:	n/a	chr14:21539622-21539635 chr14:21539711-21539724 chr14:21539714-21539727

No.	Distal block	Cell Line	Cell type
1	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
2	chr14:21537028..21541987-chr14:21553672..21557659,5	MCF-7	breast:
3	chr14:21539183..21541334-chr14:21547839..21549455,2	K562	blood:
4	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
5	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
6	chr14:21538435..21540879-chr14:21565246..21568452,4	K562	blood:
7	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:
8	chr14:21539634..21541782-chr14:21548249..21551082,2	MCF-7	breast:
9	chr14:21507927..21508724-chr14:21539605..21540435,2	K562	blood:
10	chr14:21539411..21540293-chr9:130213350..130214291,2	NB4	blood:
11	chr14:21537531..21539951-chr14:21850509..21852388,2	MCF-7	breast:
12	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

Variant related genes	Relation type
NDRG2	TF binding region
ARHGEF40	TF binding region
ENSG00000232070	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000165801	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1952151	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3827913	0.86[ASN][1000 genomes]
rs7140850	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8019890	0.81[AMR][1000 genomes]
rs943991	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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 miRNA	45 gene(s)	inside rSNPs	diseases
2	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4982404	FLJ10357	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21536600-21540000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:21536800-21540000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:21536800-21540200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:21536800-21540200	Active TSS	Aorta	Aorta
5	chr14:21536800-21540200	Active TSS	Fetal Kidney	kidney
6	chr14:21536800-21540400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:21536800-21540400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:21536800-21540600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:21537000-21540000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
10	chr14:21537000-21540200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr14:21537200-21539800	Active TSS	Lung	lung
12	chr14:21537200-21540000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:21537200-21540000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:21537200-21540000	Active TSS	Brain Substantia Nigra	brain
15	chr14:21537200-21540200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:21537200-21540200	Active TSS	Ovary	ovary
17	chr14:21537400-21539800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:21537400-21540000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:21537400-21540000	Active TSS	Brain Hippocampus Middle	brain
20	chr14:21537400-21540200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:21537400-21540200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:21537600-21540000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:21537600-21540000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:21537600-21540000	Active TSS	Gastric	stomach
25	chr14:21537600-21540200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:21537800-21539800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:21537800-21540000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:21537800-21540000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:21537800-21540000	Active TSS	Left Ventricle	heart
30	chr14:21537800-21540000	Active TSS	HSMMtube	muscle
31	chr14:21537800-21540000	Active TSS	NHDF-Ad	bronchial
32	chr14:21537800-21540200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:21537800-21540200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:21537800-21540200	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr14:21538000-21539800	Active TSS	K562	blood
36	chr14:21538000-21540000	Active TSS	Brain Anterior Caudate	brain
37	chr14:21538000-21540000	Active TSS	Fetal Heart	heart
38	chr14:21538000-21540200	Active TSS	Fetal Lung	lung
39	chr14:21538000-21540200	Active TSS	Rectal Smooth Muscle	rectum
40	chr14:21538000-21540200	Flanking Active TSS	HMEC	breast
41	chr14:21538000-21540600	Active TSS	Colon Smooth Muscle	Colon
42	chr14:21538200-21539800	Active TSS	A549	lung
43	chr14:21538200-21540000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:21538200-21540000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:21538200-21540000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:21538200-21540000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:21538200-21540000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:21538200-21540000	Active TSS	Fetal Intestine Large	intestine
49	chr14:21538200-21540000	Active TSS	Fetal Intestine Small	intestine
50	chr14:21538200-21540000	Active TSS	Rectal Mucosa Donor 31	rectum

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