Variant report

Variant	rs34242177
Chromosome Location	chr14:38067248-38067249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:38066803-38067688	H1-hESC	embryonic stem cell:	n/a	chr14:38067470-38067480 chr14:38067471-38067480 chr14:38067471-38067480 chr14:38067472-38067479
2	E2F6	chr14:38066691-38067827	H1-hESC	embryonic stem cell:	n/a	chr14:38066965-38066972 chr14:38066965-38066972 chr14:38066965-38066972
3	MAX	chr14:38066927-38067285	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr14:38066765-38067279	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr14:38066159-38069589	NT2-D1	testis:	n/a	n/a
6	CTCF	chr14:38067160-38067310	NHLF	lung:	n/a	n/a
7	POLR2A	chr14:38066882-38067441	HepG2	liver:	n/a	n/a
8	ZNF263	chr14:38066770-38067285	HEK293-T-REx	kidney:	n/a	n/a
9	MAX	chr14:38067224-38067687	H1-hESC	embryonic stem cell:	n/a	chr14:38067470-38067480 chr14:38067471-38067480 chr14:38067471-38067480 chr14:38067472-38067479
10	SUZ12	chr14:38066939-38069700	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr14:38066748-38067269	H1-hESC	embryonic stem cell:	n/a	chr14:38067074-38067082
12	YY1	chr14:38066717-38067339	H1-hESC	embryonic stem cell:	n/a	chr14:38067074-38067082

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38067219-38067269	AG04449	skin:	fetal
2	chr14:38067219-38067269	Hela-S3	cervix:	n/a
3	chr14:38067219-38067269	PANC-1	pancreas:	n/a
4	chr14:38067219-38067269	GM06990	blood:	n/a
5	chr14:38067219-38067269	NH-A	brain:	n/a
6	chr14:38067219-38067269	NHBE	bronchial:	n/a
7	chr14:38067219-38067269	SAEC	small airway:	n/a
8	chr14:38067219-38067269	IMR90	lung:	fetal
9	chr14:38067219-38067269	SKMC	muscle:	n/a
10	chr14:38067219-38067269	PFSK-1	brain:	n/a
11	chr14:38067219-38067269	NT2-D1	testis:	n/a
12	chr14:38067219-38067269	HCM	heart:	n/a
13	chr14:38067219-38067269	PrEC	prostate:	n/a
14	chr14:38067219-38067269	HCPEpiC	choroid plexus:	n/a
15	chr14:38067219-38067269	HCF	heart:	n/a
16	chr14:38067219-38067269	Hepatocyte	liver:	n/a
17	chr14:38067219-38067269	SK-N-SH_RA	brain:	n/a
18	chr14:38067219-38067269	ECC-1	luminal epithelium:	n/a
19	chr14:38067219-38067269	GM12878	blood:	n/a
20	chr14:38067219-38067269	ProgFib	skin:	n/a
21	chr14:38067219-38067269	HepG2	liver:	n/a
22	chr14:38067219-38067269	AoSMC	blood vessel:	n/a
23	chr14:38067219-38067269	LNCaP	prostate:	n/a
24	chr14:38067219-38067269	H1-hESC	embryonic stem cell:	embryo
25	chr14:38067219-38067269	AG09319	gingival:	n/a
26	chr14:38067219-38067269	HRPEpiC	eye:	n/a
27	chr14:38067219-38067269	AG04450	lung:	fetal
28	chr14:38067219-38067269	Jurkat	blood:	n/a
29	chr14:38067219-38067269	BJ	skin:	n/a
30	chr14:38067219-38067269	U87	brain:	n/a
31	chr14:38067219-38067269	HEEpiC	esophagus:	n/a
32	chr14:38067219-38067269	HAEpiC	amniotic membrane:	n/a
33	chr14:38067219-38067269	AG09309	skin:	n/a
34	chr14:38067219-38067269	HEK293	kidney:	embryo
35	chr14:38067219-38067269	HMEC	breast:	n/a
36	chr14:38067219-38067269	HUVEC	blood vessel:	n/a
37	chr14:38067219-38067269	SK-N-MC	brain:	n/a
38	chr14:38067219-38067269	HL-60	blood:	n/a
39	chr14:38067219-38067269	CMK	blood:	n/a
40	chr14:38067219-38067269	BE2_C	brain:	n/a
41	chr14:38067219-38067269	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:38067219-38067269	MCF-7	breast:	n/a
43	chr14:38067219-38067269	HNPCEpiC	eye:	n/a
44	chr14:38067219-38067269	SK-N-SH	brain:	n/a
45	chr14:38067219-38067269	AG10803	skin:	n/a
46	chr14:38067219-38067269	K562	blood:	n/a
47	chr14:38067219-38067269	HRCEpiC	kidney:	n/a
48	chr14:38067219-38067269	GM12891	blood:	n/a
49	chr14:38067219-38067269	HCT-116	colon:	n/a
50	chr14:38067219-38067269	NB4	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38065477..38068089-chr14:38070439..38072783,2	K562	blood:
2	chr14:38066098..38067746-chr16:30886029..30887943,2	MCF-7	breast:
3	chr14:38065961..38068630-chr14:38077390..38079134,2	K562	blood:
4	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
5	chr14:38065742..38067399-chr6:13813681..13815787,2	MCF-7	breast:
6	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
7	chr14:38032780..38033613-chr14:38066475..38067257,2	MCF-7	breast:
8	chr14:38066724..38068899-chr14:38073315..38075448,2	K562	blood:
9	chr14:38066762..38068262-chr17:59431562..59433870,3	MCF-7	breast:
10	chr14:37667184..37668809-chr14:38065579..38068114,2	MCF-7	breast:

No data

Variant related genes	Relation type
FOXA1	TF binding region
FOXA1	CpG island
ENSG00000258414	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000260083	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs12147674	1.00[AFR][1000 genomes]
rs12878124	1.00[AFR][1000 genomes]
rs12878633	1.00[AFR][1000 genomes]
rs12878710	1.00[AFR][1000 genomes]
rs12878846	1.00[AFR][1000 genomes]
rs12879149	1.00[AFR][1000 genomes]
rs12879319	1.00[AFR][1000 genomes]
rs12882123	1.00[AFR][1000 genomes]
rs12882687	1.00[AFR][1000 genomes]
rs12882773	1.00[AFR][1000 genomes]
rs12887471	1.00[AFR][1000 genomes]
rs12887758	1.00[AFR][1000 genomes]
rs12888451	1.00[AFR][1000 genomes]
rs12889687	1.00[AFR][1000 genomes]
rs12889859	1.00[AFR][1000 genomes]
rs12890074	1.00[AFR][1000 genomes]
rs12890845	1.00[AFR][1000 genomes]
rs12893402	1.00[AFR][1000 genomes]
rs12894394	1.00[AFR][1000 genomes]
rs12896790	1.00[AFR][1000 genomes]
rs12897309	1.00[AFR][1000 genomes]
rs17106861	0.93[EUR][1000 genomes]
rs17179274	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17179281	0.93[EUR][1000 genomes]
rs17179609	1.00[AFR][1000 genomes]
rs17768440	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17768654	1.00[AFR][1000 genomes]
rs33984772	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34025516	1.00[AFR][1000 genomes]
rs34043056	1.00[AFR][1000 genomes]
rs34069628	1.00[AFR][1000 genomes]
rs34184341	1.00[AFR][1000 genomes]
rs34256053	1.00[AFR][1000 genomes]
rs34265999	1.00[AFR][1000 genomes]
rs34273412	1.00[AFR][1000 genomes]
rs34306117	1.00[AFR][1000 genomes]
rs34338696	1.00[AFR][1000 genomes]
rs34434018	1.00[AFR][1000 genomes]
rs34450997	1.00[AFR][1000 genomes]
rs34469876	1.00[AFR][1000 genomes]
rs34496783	1.00[AFR][1000 genomes]
rs34516219	1.00[AFR][1000 genomes]
rs34543736	1.00[AFR][1000 genomes]
rs34548330	1.00[AFR][1000 genomes]
rs34567961	1.00[AFR][1000 genomes]
rs34586390	1.00[AFR][1000 genomes]
rs34680819	1.00[AFR][1000 genomes]
rs34747911	1.00[AFR][1000 genomes]
rs34813864	1.00[AFR][1000 genomes]
rs34830744	1.00[AFR][1000 genomes]
rs34886614	1.00[AFR][1000 genomes]
rs35030337	1.00[AFR][1000 genomes]
rs35074434	1.00[AFR][1000 genomes]
rs35082276	1.00[AFR][1000 genomes]
rs35110244	1.00[AFR][1000 genomes]
rs35111962	1.00[AFR][1000 genomes]
rs35141852	1.00[AFR][1000 genomes]
rs35169093	1.00[AFR][1000 genomes]
rs35190835	1.00[AFR][1000 genomes]
rs35294705	1.00[AFR][1000 genomes]
rs35310265	1.00[AFR][1000 genomes]
rs35319231	1.00[AFR][1000 genomes]
rs35330350	1.00[AFR][1000 genomes]
rs35333548	1.00[AFR][1000 genomes]
rs35347282	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35350493	1.00[AFR][1000 genomes]
rs35383091	1.00[AFR][1000 genomes]
rs35393462	1.00[AFR][1000 genomes]
rs35413274	1.00[AFR][1000 genomes]
rs35427651	1.00[AFR][1000 genomes]
rs35435404	1.00[AFR][1000 genomes]
rs35438963	1.00[AFR][1000 genomes]
rs35441075	1.00[AFR][1000 genomes]
rs35470726	1.00[AFR][1000 genomes]
rs35505269	1.00[AFR][1000 genomes]
rs35536208	1.00[AFR][1000 genomes]
rs35610918	1.00[AFR][1000 genomes]
rs35699962	1.00[AFR][1000 genomes]
rs35706871	1.00[AFR][1000 genomes]
rs35748911	1.00[AFR][1000 genomes]
rs35791659	1.00[AFR][1000 genomes]
rs35802121	1.00[AFR][1000 genomes]
rs35852338	1.00[AFR][1000 genomes]
rs35891950	1.00[AFR][1000 genomes]
rs35926829	1.00[AFR][1000 genomes]
rs35926928	1.00[AFR][1000 genomes]
rs35942161	1.00[AFR][1000 genomes]
rs36004540	1.00[AFR][1000 genomes]
rs36044547	1.00[AFR][1000 genomes]
rs36074427	1.00[AFR][1000 genomes]
rs36189403	1.00[AFR][1000 genomes]
rs36194865	1.00[AFR][1000 genomes]
rs55734217	1.00[AFR][1000 genomes]
rs55972477	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56223359	1.00[AFR][1000 genomes]
rs71405800	1.00[AFR][1000 genomes]
rs71407707	1.00[AFR][1000 genomes]
rs71407708	1.00[AFR][1000 genomes]
rs71407709	1.00[AFR][1000 genomes]
rs71407710	1.00[AFR][1000 genomes]
rs71407711	1.00[AFR][1000 genomes]
rs71407712	1.00[AFR][1000 genomes]
rs71407716	1.00[AFR][1000 genomes]
rs71407717	1.00[AFR][1000 genomes]
rs71407718	1.00[AFR][1000 genomes]
rs71407720	1.00[AFR][1000 genomes]
rs71407721	1.00[AFR][1000 genomes]
rs71407722	1.00[AFR][1000 genomes]
rs71407723	1.00[AFR][1000 genomes]
rs71407724	1.00[AFR][1000 genomes]
rs71407725	1.00[AFR][1000 genomes]
rs71407726	1.00[AFR][1000 genomes]
rs71407727	1.00[AFR][1000 genomes]
rs71407728	1.00[AFR][1000 genomes]
rs71407729	1.00[AFR][1000 genomes]
rs71407730	1.00[AFR][1000 genomes]
rs71407731	1.00[AFR][1000 genomes]
rs71407732	1.00[AFR][1000 genomes]
rs71407733	1.00[AFR][1000 genomes]
rs71407734	1.00[AFR][1000 genomes]
rs71407741	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38065000-38069600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr14:38065800-38067600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr14:38065800-38068800	Bivalent Enhancer	HMEC	breast
4	chr14:38066000-38068600	Enhancers	Liver	Liver
5	chr14:38066400-38067400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
6	chr14:38066600-38068800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr14:38066600-38070000	Weak transcription	A549	lung
8	chr14:38066800-38067400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:38066800-38067400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:38066800-38067400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
11	chr14:38066800-38067400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
12	chr14:38066800-38067400	Bivalent Enhancer	Right Ventricle	heart
13	chr14:38066800-38067600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr14:38066800-38067600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr14:38066800-38067600	Bivalent Enhancer	Left Ventricle	heart
16	chr14:38066800-38068000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr14:38066800-38068800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:38066800-38069600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr14:38067000-38067400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr14:38067000-38067400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:38067000-38067400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:38067000-38067400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:38067000-38067400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:38067000-38067400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:38067000-38067400	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr14:38067000-38067400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr14:38067000-38067400	Flanking Bivalent TSS/Enh	NHEK	skin
28	chr14:38067000-38067600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:38067000-38067600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr14:38067000-38067600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:38067000-38067600	Bivalent/Poised TSS	Colonic Mucosa	Colon
32	chr14:38067000-38067800	Bivalent Enhancer	HUVEC	blood vessel
33	chr14:38067000-38068000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:38067000-38068000	Active TSS	Esophagus	oesophagus
35	chr14:38067000-38068400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr14:38067000-38068600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:38067000-38069200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr14:38067000-38069200	Strong transcription	HepG2	liver
39	chr14:38067000-38069400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:38067000-38069400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr14:38067000-38069400	Bivalent Enhancer	Brain Substantia Nigra	brain
42	chr14:38067000-38069400	Bivalent Enhancer	Colon Smooth Muscle	Colon
43	chr14:38067000-38069400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr14:38067000-38069600	Enhancers	Pancreas	Pancrea
45	chr14:38067200-38067400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr14:38067200-38067400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:38067200-38067400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:38067200-38067400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:38067200-38067400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr14:38067200-38067400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain

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