Variant report

Variant	rs12614414
Chromosome Location	chr2:153399497-153399498
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	REST	chr2:153399491-153399779	SK-N-SH	brain:	n/a	chr2:153399767-153399777
2	FOS	chr2:153399487-153399711	MCF10A-Er-Src	breast:	n/a	chr2:153399569-153399577
3	POLR2A	chr2:153399239-153399908	HUVEC	blood vessel:	n/a	n/a
4	EP300	chr2:153399379-153400094	SK-N-SH_RA	brain:	n/a	n/a
5	FOSL2	chr2:153399478-153399703	A549	lung:	n/a	chr2:153399569-153399577
6	POLR2A	chr2:153399198-153399813	U87	brain:	n/a	n/a
7	TCF12	chr2:153399043-153400311	SK-N-SH	brain:	n/a	n/a
8	JUN	chr2:153399408-153399846	HUVEC	blood vessel:	n/a	chr2:153399569-153399577
9	JUND	chr2:153399416-153399692	H1-hESC	embryonic stem cell:	n/a	chr2:153399569-153399577
10	MAFK	chr2:153399399-153399829	IMR90	lung:	n/a	chr2:153399567-153399576
11	MAX	chr2:153399335-153400099	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr2:153399254-153399831	A549	lung:	n/a	chr2:153399569-153399577
13	POLR2A	chr2:153399092-153400328	U87	brain:	n/a	n/a
14	JUND	chr2:153398999-153400306	SK-N-SH	brain:	n/a	chr2:153400286-153400295 chr2:153399569-153399577
15	SIN3AK20	chr2:153399401-153399904	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr2:153399008-153400093	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr2:153399268-153400142	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr2:153399228-153400502	IMR90	lung:	n/a	n/a
19	GATA3	chr2:153399303-153400056	SK-N-SH	brain:	n/a	n/a
20	SP1	chr2:153399292-153400097	A549	lung:	n/a	n/a
21	FOS	chr2:153399415-153399727	MCF10A-Er-Src	breast:	n/a	chr2:153399569-153399577
22	NFIC	chr2:153399196-153400107	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr2:153399004-153400210	SK-N-SH	brain:	n/a	n/a
24	FOSL2	chr2:153399241-153400038	SK-N-SH	brain:	n/a	chr2:153399569-153399577
25	POLR2A	chr2:153399198-153400092	U87	brain:	n/a	n/a
26	TEAD4	chr2:153399370-153399997	SK-N-SH	brain:	n/a	n/a
27	RAD21	chr2:153399465-153399768	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr2:153399346-153400060	SK-N-SH	brain:	n/a	n/a
29	FOSL2	chr2:153399420-153399847	SK-N-SH	brain:	n/a	chr2:153399569-153399577
30	CEBPB	chr2:153399385-153400082	IMR90	lung:	n/a	n/a
31	JUND	chr2:153399439-153399749	HepG2	liver:	n/a	chr2:153399569-153399577
32	EP300	chr2:153399082-153400175	SK-N-SH	brain:	n/a	chr2:153399202-153399209
33	MAX	chr2:153399411-153400098	SK-N-SH	brain:	n/a	n/a
34	EP300	chr2:153399345-153400047	SK-N-SH_RA	brain:	n/a	n/a
35	POLR2A	chr2:153399447-153399767	SK-N-SH	brain:	n/a	n/a
36	JUND	chr2:153399208-153400174	SK-N-SH	brain:	n/a	chr2:153399569-153399577
37	FOS	chr2:153399436-153399727	MCF10A-Er-Src	breast:	n/a	chr2:153399569-153399577
38	JUND	chr2:153399314-153399918	SK-N-SH	brain:	n/a	chr2:153399569-153399577
39	RAD21	chr2:153399368-153400105	SK-N-SH_RA	brain:	n/a	n/a
40	FOS	chr2:153399241-153399794	HUVEC	blood vessel:	n/a	chr2:153399569-153399577
41	CEBPB	chr2:153399447-153399689	A549	lung:	n/a	n/a
42	POLR2A	chr2:153399092-153400322	U87	brain:	n/a	n/a
43	TCF12	chr2:153398931-153400306	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr2:153399284-153400012	IMR90	lung:	n/a	n/a
45	STAT3	chr2:153399337-153399505	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:
2	chr2:153398875..153400622-chr2:153402509..153405231,2	MCF-7	breast:
3	chr2:153398378..153401093-chr2:153404602..153406288,2	K562	blood:
4	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

Variant related genes	Relation type
ENSG00000270776	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4664114	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12614414	FMNL2	cis	brain	BrainEAC

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
2	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
4	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
6	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
8	chr2:153394000-153399800	Weak transcription	Fetal Lung	lung
9	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
10	chr2:153397600-153400000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:153397600-153400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:153397600-153400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:153397800-153399600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:153397800-153399800	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:153398000-153399600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:153398000-153400200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:153398000-153402800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:153398200-153399600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:153398200-153400400	Enhancers	HMEC	breast
21	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
22	chr2:153398400-153400000	Enhancers	Hela-S3	cervix
23	chr2:153398400-153400200	Enhancers	Stomach Mucosa	stomach
24	chr2:153398400-153400400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:153398400-153400600	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:153398400-153400600	Enhancers	NHDF-Ad	bronchial
27	chr2:153398400-153402400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:153398400-153403400	Enhancers	Ovary	ovary
29	chr2:153398400-153405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:153398600-153400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:153398600-153400000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:153398600-153400200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:153398600-153400200	Enhancers	Fetal Stomach	stomach
34	chr2:153398600-153400200	Enhancers	HSMMtube	muscle
35	chr2:153398600-153400800	Enhancers	HSMM	muscle
36	chr2:153398600-153402400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:153398600-153404000	Weak transcription	Gastric	stomach
38	chr2:153398800-153399600	Enhancers	Fetal Intestine Small	intestine
39	chr2:153398800-153400000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:153398800-153400200	Enhancers	Fetal Muscle Leg	muscle
41	chr2:153398800-153400200	Genic enhancers	Placenta	Placenta
42	chr2:153398800-153400600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:153398800-153400600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:153398800-153400600	Enhancers	NHLF	lung
45	chr2:153398800-153401600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:153398800-153406200	Enhancers	Brain Hippocampus Middle	brain
47	chr2:153399000-153399600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:153399000-153399600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:153399000-153399600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:153399000-153399600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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