Variant report

Variant	rs2112135
Chromosome Location	chr14:78225757-78225758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:78225702-78225798	ProgFib	skin:	n/a	n/a
2	POLR2A	chr14:78225563-78225788	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:78225749-78225757	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:78225753-78225803	AG10803	skin:	n/a
2	chr14:78225753-78225803	PFSK-1	brain:	n/a
3	chr14:78225753-78225803	SAEC	small airway:	n/a
4	chr14:78225753-78225803	GM06990	blood:	n/a
5	chr14:78225753-78225803	NB4	blood:	n/a
6	chr14:78225753-78225803	GM12878	blood:	n/a
7	chr14:78225753-78225803	ECC-1	luminal epithelium:	n/a
8	chr14:78225753-78225803	NT2-D1	testis:	n/a
9	chr14:78225753-78225803	GM12892	blood:	n/a
10	chr14:78225753-78225803	SKMC	muscle:	n/a
11	chr14:78225753-78225803	HepG2	liver:	n/a
12	chr14:78225753-78225803	HIPEpiC	eye:	n/a
13	chr14:78225753-78225803	HEEpiC	esophagus:	n/a
14	chr14:78225753-78225803	AoSMC	blood vessel:	n/a
15	chr14:78225753-78225803	HRCEpiC	kidney:	n/a
16	chr14:78225753-78225803	BE2_C	brain:	n/a
17	chr14:78225753-78225803	Hela-S3	cervix:	n/a
18	chr14:78225753-78225803	GM19239	blood:	n/a
19	chr14:78225753-78225803	ovcar-3	ovarian:	n/a
20	chr14:78225753-78225803	PANC-1	pancreas:	n/a
21	chr14:78225753-78225803	ProgFib	skin:	n/a
22	chr14:78225753-78225803	SK-N-MC	brain:	n/a
23	chr14:78225753-78225803	HAEpiC	amniotic membrane:	n/a
24	chr14:78225753-78225803	NHDF-neo	bronchial:	n/a
25	chr14:78225753-78225803	GM12891	blood:	n/a
26	chr14:78225753-78225803	CMK	blood:	n/a
27	chr14:78225753-78225803	HRPEpiC	eye:	n/a
28	chr14:78225753-78225803	HCM	heart:	n/a
29	chr14:78225753-78225803	BJ	skin:	n/a
30	chr14:78225753-78225803	HUVEC	blood vessel:	n/a
31	chr14:78225753-78225803	Jurkat	blood:	n/a
32	chr14:78225753-78225803	SK-N-SH	brain:	n/a
33	chr14:78225753-78225803	H1-hESC	embryonic stem cell:	embryo
34	chr14:78225753-78225803	HCF	heart:	n/a
35	chr14:78225753-78225803	HMEC	breast:	n/a
36	chr14:78225753-78225803	MCF10A-Er-Src	breast:	n/a
37	chr14:78225753-78225803	NHBE	bronchial:	n/a
38	chr14:78225753-78225803	MCF-7	breast:	n/a
39	chr14:78225753-78225803	PrEC	prostate:	n/a
40	chr14:78225753-78225803	K562	blood:	n/a
41	chr14:78225753-78225803	HRE	kidney:	n/a
42	chr14:78225753-78225803	AG09319	gingival:	n/a
43	chr14:78225753-78225803	HNPCEpiC	eye:	n/a
44	chr14:78225753-78225803	AG04449	skin:	fetal
45	chr14:78225753-78225803	HEK293	kidney:	embryo
46	chr14:78225753-78225803	IMR90	lung:	fetal
47	chr14:78225753-78225803	T-47D	breast:	n/a
48	chr14:78225753-78225803	LNCaP	prostate:	n/a
49	chr14:78225753-78225803	U87	brain:	n/a
50	chr14:78225753-78225803	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:78223843..78225909-chr14:78468735..78470823,2	K562	blood:
2	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
3	chr14:78217096..78219959-chr14:78223868..78226613,3	K562	blood:
4	chr14:78003135..78004695-chr14:78224805..78226945,2	K562	blood:
5	chr14:78225549..78228360-chr14:78265163..78268062,4	K562	blood:

No data

Variant related genes	Relation type
C14orf178	TF binding region
C14orf178	CpG island
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10162548	1.00[ASN][1000 genomes]
rs11621162	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621593	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11622176	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622411	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622449	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623898	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624052	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624063	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625029	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625607	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626900	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628795	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825434	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825458	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825620	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032745	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111829	0.89[AFR][1000 genomes]
rs28445066	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28541608	1.00[ASN][1000 genomes]
rs28607620	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651563	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461000	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464012	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45444693	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45465691	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996830	1.00[ASN][1000 genomes]
rs55636050	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55922310	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995783	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003103	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025136	0.88[ASN][1000 genomes]
rs56060413	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065232	1.00[ASN][1000 genomes]
rs56109335	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56339806	0.87[AFR][1000 genomes]
rs57615727	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171071	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59200674	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493	0.81[AFR][1000 genomes]
rs6494	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140838	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146719	1.00[ASN][1000 genomes]
rs7148685	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155062	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685214	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685216	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685219	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685222	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685223	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685230	1.00[ASN][1000 genomes]
rs72685232	1.00[ASN][1000 genomes]
rs72685238	0.81[AFR][1000 genomes]
rs72685244	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685246	0.81[AFR][1000 genomes]
rs72685260	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685273	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685280	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685281	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685293	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685296	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685297	0.92[AFR][1000 genomes]
rs72685300	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685302	0.92[AFR][1000 genomes]
rs72687205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687216	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687217	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687218	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687222	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687223	0.92[AFR][1000 genomes]
rs72687228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687247	0.92[AFR][1000 genomes]
rs72687250	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687251	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688824	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015313	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2112135	SPTLC2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78214200-78226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78217000-78226600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:78218000-78226400	Weak transcription	Aorta	Aorta
5	chr14:78218200-78226400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:78218400-78226000	Weak transcription	Colonic Mucosa	Colon
7	chr14:78218400-78226400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:78219600-78225800	Weak transcription	HUVEC	blood vessel
9	chr14:78219800-78226400	Weak transcription	HSMM	muscle
10	chr14:78220000-78226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:78221400-78226000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:78221400-78226400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:78221600-78225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:78221600-78226000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:78221600-78226400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:78221600-78226600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:78221800-78226200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr14:78222000-78225800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:78222000-78226000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:78222600-78226200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:78222800-78226000	Weak transcription	Fetal Intestine Large	intestine
22	chr14:78223000-78226000	Weak transcription	Fetal Lung	lung
23	chr14:78223000-78226600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:78223200-78226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:78223400-78226200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:78223400-78226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:78223600-78226000	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr14:78223600-78226200	Enhancers	Primary T cells from cord blood	blood
29	chr14:78223600-78226400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:78223600-78226400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:78223600-78226400	Enhancers	Adipose Nuclei	Adipose
32	chr14:78223800-78225800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:78223800-78225800	Genic enhancers	Dnd41	blood
34	chr14:78223800-78226000	Enhancers	Brain Germinal Matrix	brain
35	chr14:78223800-78226200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:78223800-78226400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:78224000-78226200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:78224200-78226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:78224600-78226400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:78224600-78226400	Enhancers	Psoas Muscle	Psoas
41	chr14:78224800-78225800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:78224800-78225800	Genic enhancers	Primary B cells from cord blood	blood
43	chr14:78224800-78225800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:78224800-78225800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:78224800-78225800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr14:78224800-78225800	Genic enhancers	Hela-S3	cervix
47	chr14:78224800-78226000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:78224800-78226000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:78224800-78226000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:78224800-78226000	Genic enhancers	NHEK	skin

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