Variant report

Variant	rs34468496
Chromosome Location	chr1:150552159-150552160
allele	A/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	TAF1	chr1:150551410-150552492	A549	lung:	n/a	n/a
2	MAX	chr1:150550776-150552336	ECC-1	luminal epithelium:	n/a	n/a
3	JUND	chr1:150551918-150552169	HepG2	liver:	n/a	n/a
4	REST	chr1:150551762-150552249	MCF-7	breast:	n/a	chr1:150552093-150552101
5	SPI1	chr1:150551875-150552178	K562	blood:	n/a	chr1:150552070-150552079 chr1:150552068-150552081 chr1:150552067-150552080 chr1:150552074-150552083
6	SIX5	chr1:150551629-150552190	A549	lung:	n/a	n/a
7	POLR2A	chr1:150550789-150552538	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:150546850-150552818	GM12878	blood:	n/a	n/a
9	ETS1	chr1:150551103-150552235	K562	blood:	n/a	chr1:150552017-150552028 chr1:150552072-150552082 chr1:150552068-150552083 chr1:150552071-150552080 chr1:150552014-150552025
10	TAF1	chr1:150550668-150552520	H1-neurons	neurons:	n/a	n/a
11	SPI1	chr1:150551820-150552261	GM12891	blood:	n/a	chr1:150552070-150552079 chr1:150552068-150552081 chr1:150552067-150552080 chr1:150552074-150552083
12	MAX	chr1:150551063-150552871	H1-hESC	embryonic stem cell:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
13	POLR2A	chr1:150551528-150552844	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr1:150552020-150552170	HRE	kidney:	n/a	n/a
15	EGR1	chr1:150551609-150552241	K562	blood:	n/a	chr1:150552071-150552080
16	MXI1	chr1:150550958-150552172	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr1:150551800-150552814	H1-hESC	embryonic stem cell:	n/a	chr1:150552667-150552677 chr1:150552667-150552677 chr1:150552666-150552677 chr1:150552668-150552675 chr1:150552667-150552676
18	ARID3A	chr1:150551901-150552649	HepG2	liver:	n/a	n/a
19	SRF	chr1:150551872-150552474	GM12878	blood:	n/a	chr1:150551994-150552009 chr1:150552167-150552185 chr1:150552169-150552187 chr1:150552172-150552189 chr1:150552170-150552185
20	TEAD4	chr1:150551818-150552280	A549	lung:	n/a	n/a
21	SRF	chr1:150551874-150552365	HepG2	liver:	n/a	chr1:150551994-150552009 chr1:150552167-150552185 chr1:150552169-150552187 chr1:150552172-150552189 chr1:150552170-150552185
22	CEBPB	chr1:150550798-150552753	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:150550120-150552171	GM12891	blood:	n/a	n/a
24	POLR2A	chr1:150550628-150552269	HL-60	blood:	n/a	n/a
25	PBX3	chr1:150551871-150552327	A549	lung:	n/a	n/a
26	CHD2	chr1:150551012-150552573	Hela-S3	cervix:	n/a	n/a
27	NR2F2	chr1:150551893-150552169	K562	blood:	n/a	n/a
28	RELA	chr1:150551862-150552581	GM18526	blood:	n/a	n/a
29	RELA	chr1:150551842-150552691	GM12892	blood:	n/a	n/a
30	USF1	chr1:150551805-150552217	A549	lung:	n/a	n/a
31	GATA3	chr1:150550725-150552482	A549	lung:	n/a	n/a
32	ELF1	chr1:150550837-150552499	GM12878	blood:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
33	ATF2	chr1:150550029-150552184	H1-hESC	embryonic stem cell:	n/a	chr1:150551735-150551749
34	ELF1	chr1:150551591-150552716	HCT-116	colon:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
35	NFYB	chr1:150551706-150552226	GM12878	blood:	n/a	chr1:150551826-150551841
36	ZNF143	chr1:150551226-150552229	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr1:150551833-150552247	PFSK-1	brain:	n/a	n/a
38	BCL3	chr1:150551822-150552318	GM12878	blood:	n/a	chr1:150552016-150552025 chr1:150552071-150552080 chr1:150552017-150552030 chr1:150552074-150552083
39	SRF	chr1:150550634-150552910	MCF-7	breast:	n/a	chr1:150551994-150552009 chr1:150552167-150552185 chr1:150552169-150552187 chr1:150552172-150552189 chr1:150552170-150552185
40	YY1	chr1:150550954-150552205	K562	blood:	n/a	chr1:150552017-150552026 chr1:150552015-150552029 chr1:150552014-150552025 chr1:150552014-150552023 chr1:150552009-150552023
41	POLR2A	chr1:150550237-150552750	GM19099	blood:	n/a	n/a
42	BHLHE40	chr1:150551816-150552506	K562	blood:	n/a	n/a
43	TBL1XR1	chr1:150551571-150552735	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:150546864-150552806	GM18505	blood:	n/a	n/a
45	ELK1	chr1:150551678-150552380	K562	blood:	n/a	n/a
46	TAF1	chr1:150551786-150552202	GM12892	blood:	n/a	n/a
47	SIN3AK20	chr1:150550672-150552836	HCT-116	colon:	n/a	n/a
48	ZKSCAN1	chr1:150550788-150552743	Hela-S3	cervix:	n/a	n/a
49	ELF1	chr1:150551704-150552497	A549	lung:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
50	SIN3AK20	chr1:150550729-150552540	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150552138-150552188	PFSK-1	brain:	n/a
2	chr1:150552138-150552188	ProgFib	skin:	n/a
3	chr1:150552138-150552188	MCF-7	breast:	n/a
4	chr1:150552138-150552188	HCPEpiC	choroid plexus:	n/a
5	chr1:150552138-150552188	SK-N-MC	brain:	n/a
6	chr1:150552138-150552188	BE2_C	brain:	n/a
7	chr1:150552138-150552188	HUVEC	blood vessel:	n/a
8	chr1:150552138-150552188	HL-60	blood:	n/a
9	chr1:150552138-150552188	HEEpiC	esophagus:	n/a
10	chr1:150552138-150552188	GM12878	blood:	n/a
11	chr1:150552138-150552188	PrEC	prostate:	n/a
12	chr1:150552138-150552188	HNPCEpiC	eye:	n/a
13	chr1:150552138-150552188	HMEC	breast:	n/a
14	chr1:150552138-150552188	A549	lung:	n/a
15	chr1:150552138-150552188	HepG2	liver:	n/a
16	chr1:150552138-150552188	PANC-1	pancreas:	n/a
17	chr1:150552138-150552188	IMR90	lung:	fetal
18	chr1:150552138-150552188	HCF	heart:	n/a
19	chr1:150552138-150552188	AoSMC	blood vessel:	n/a
20	chr1:150552138-150552188	HCM	heart:	n/a
21	chr1:150552138-150552188	MCF10A-Er-Src	breast:	n/a
22	chr1:150552138-150552188	GM12891	blood:	n/a
23	chr1:150552138-150552188	LNCaP	prostate:	n/a
24	chr1:150552138-150552188	GM19239	blood:	n/a
25	chr1:150552138-150552188	HRPEpiC	eye:	n/a
26	chr1:150552138-150552188	SAEC	small airway:	n/a
27	chr1:150552138-150552188	HRCEpiC	kidney:	n/a
28	chr1:150552138-150552188	HRE	kidney:	n/a
29	chr1:150552138-150552188	Hela-S3	cervix:	n/a
30	chr1:150552138-150552188	AG09309	skin:	n/a
31	chr1:150552138-150552188	BJ	skin:	n/a
32	chr1:150552138-150552188	U87	brain:	n/a
33	chr1:150552138-150552188	SKMC	muscle:	n/a
34	chr1:150552138-150552188	SK-N-SH_RA	brain:	n/a
35	chr1:150552138-150552188	RPTEC	kidney:	n/a
36	chr1:150552138-150552188	AG09319	gingival:	n/a
37	chr1:150552138-150552188	Hepatocyte	liver:	n/a
38	chr1:150552138-150552188	NHBE	bronchial:	n/a
39	chr1:150552138-150552188	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:150552138-150552188	HAEpiC	amniotic membrane:	n/a
41	chr1:150552138-150552188	H1-hESC	embryonic stem cell:	embryo
42	chr1:150552138-150552188	HCT-116	colon:	n/a
43	chr1:150552138-150552188	HEK293	kidney:	embryo
44	chr1:150552138-150552188	NH-A	brain:	n/a
45	chr1:150552138-150552188	T-47D	breast:	n/a
46	chr1:150552138-150552188	GM06990	blood:	n/a
47	chr1:150552138-150552188	ovcar-3	ovarian:	n/a
48	chr1:150552138-150552188	NHDF-neo	bronchial:	n/a
49	chr1:150552138-150552188	K562	blood:	n/a
50	chr1:150552138-150552188	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150549047..150553046-chr1:150599453..150603954,9	MCF-7	breast:
2	chr1:150547986..150553838-chr1:150598744..150606232,19	K562	blood:
3	chr1:150551805..150552465-chr17:19280758..19281562,2	Hela-S3	cervix:
4	chr1:150551657..150552400-chr16:74808155..74808789,2	Hela-S3	cervix:
5	chr1:150551576..150552313-chr16:29826989..29827624,2	Hela-S3	cervix:
6	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
7	chr1:150551230..150552170-chr19:15543286..15543786,2	Hela-S3	cervix:
8	chr1:150552019..150552561-chr20:43594621..43595161,2	NB4	blood:
9	chr1:150551803..150552520-chr11:67572791..67573460,2	Hela-S3	cervix:
10	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
11	chr1:150551630..150552530-chr6:30584974..30585551,2	Hela-S3	cervix:
12	chr1:150336951..150339274-chr1:150551327..150552882,2	K562	blood:
13	chr1:150551573..150552306-chr13:22177597..22178560,3	NB4	blood:
14	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
15	chr1:150551545..150552306-chr3:10183338..10183930,2	Hela-S3	cervix:
16	chr1:150551631..150552452-chr20:57581568..57582398,2	Hela-S3	cervix:
17	chr1:150551702..150552460-chr9:125703119..125703751,2	Hela-S3	cervix:
18	chr1:150551570..150552465-chr12:54673513..54674145,2	Hela-S3	cervix:
19	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
20	chr1:150551643..150552303-chr19:54959978..54960755,2	NB4	blood:
21	chr1:150551624..150552181-chr20:62496300..62497119,2	Hela-S3	cervix:
22	chr1:150550688..150552369-chr1:150735871..150738707,2	MCF-7	breast:
23	chr1:150551832..150552410-chr11:65190162..65190975,3	Hela-S3	cervix:
24	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
25	chr1:150551570..150552247-chr21:30445515..30446379,2	Hela-S3	cervix:
26	chr1:150551996..150552577-chr15:74833132..74834047,2	Hela-S3	cervix:
27	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
28	chr1:150550706..150553008-chr1:150788888..150791389,2	K562	blood:
29	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
30	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
31	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
32	chr1:150551619..150552408-chr12:111020807..111021543,2	Hela-S3	cervix:
33	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
34	chr1:150551863..150552672-chr2:43453330..43454322,2	MCF-7	breast:
35	chr1:150551683..150552516-chr20:44461991..44462701,2	HCT-116	colon:
36	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
37	chr1:150551545..150552358-chr7:66205002..66205777,2	Hela-S3	cervix:
38	chr1:150551727..150552440-chr5:64858910..64859636,2	Hela-S3	cervix:
39	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:
40	chr1:43282118..43282677-chr1:150551570..150552239,2	Hela-S3	cervix:
41	chr1:150551507..150552162-chr19:15221367..15222060,2	Hela-S3	cervix:
42	chr1:150552057..150552895-chr7:139025854..139026496,2	Hela-S3	cervix:
43	chr1:150533614..150534403-chr1:150551617..150552299,2	MCF-7	breast:
44	chr1:150551989..150552685-chr17:15554385..15554952,2	MCF-7	breast:
45	chr1:150551620..150552286-chr2:55646665..55647534,2	Hela-S3	cervix:
46	chr1:150548124..150553459-chr1:150571951..150579395,15	MCF-7	breast:
47	chr1:150551961..150552659-chr6:35888288..35889046,2	HCT-116	colon:
48	chr1:150551464..150552407-chr5:68513110..68514387,3	Hela-S3	cervix:
49	chr1:150551378..150553300-chr1:150944488..150946159,2	MCF-7	breast:
50	chr1:150551690..150552525-chr3:101568225..101569214,2	Hela-S3	cervix:

Variant related genes	Relation type
MCL1	TF binding region
MCL1	CpG island
ENSG00000225996	Chromatin interaction
ENSG00000269955	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000266261	Chromatin interaction
ENSG00000096063	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000105137	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000113593	Chromatin interaction
ENSG00000177868	Chromatin interaction
ENSG00000094916	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000134086	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000167615	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000101160	Chromatin interaction
ENSG00000123219	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000164898	Chromatin interaction
ENSG00000165487	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000011451	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000108641	Chromatin interaction
ENSG00000011454	Chromatin interaction
ENSG00000166484	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000227477	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000226696	Chromatin interaction
ENSG00000163131	Chromatin interaction
ENSG00000253047	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000160172	Chromatin interaction
ENSG00000156261	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000101470	Chromatin interaction
ENSG00000103089	Chromatin interaction
ENSG00000185928	Chromatin interaction
ENSG00000124104	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000101109	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000196850	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000135486	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6661538	1.00[AMR][1000 genomes]
rs7546214	1.00[AMR][1000 genomes]
rs9660105	1.00[AMR][1000 genomes]
rs9662110	1.00[AMR][1000 genomes]
rs9662289	1.00[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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 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	chr1:150547600-150552800	Active TSS	Ovary	ovary
2	chr1:150548200-150552400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:150548200-150552800	Active TSS	Aorta	Aorta
4	chr1:150548600-150553000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:150548800-150552600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:150549000-150552400	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:150549000-150552600	Active TSS	Stomach Mucosa	stomach
8	chr1:150549000-150553000	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr1:150549200-150553000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:150549600-150552800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:150549800-150552400	Active TSS	Placenta Amnion	Placenta Amnion
12	chr1:150549800-150552600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:150549800-150552600	Active TSS	Small Intestine	intestine
14	chr1:150549800-150552800	Active TSS	Psoas Muscle	Psoas
15	chr1:150550000-150552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr1:150550000-150552400	Active TSS	Brain Anterior Caudate	brain
17	chr1:150550000-150552400	Active TSS	Brain Hippocampus Middle	brain
18	chr1:150550000-150552400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:150550000-150552400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr1:150550000-150552400	Active TSS	Fetal Intestine Large	intestine
21	chr1:150550000-150552400	Active TSS	Fetal Kidney	kidney
22	chr1:150550000-150552400	Active TSS	Placenta	Placenta
23	chr1:150550000-150552600	Active TSS	Brain Angular Gyrus	brain
24	chr1:150550000-150552600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:150550000-150552600	Active TSS	Brain Substantia Nigra	brain
26	chr1:150550000-150552600	Active TSS	Fetal Brain Female	brain
27	chr1:150550000-150552800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:150550000-150552800	Active TSS	Lung	lung
29	chr1:150550000-150552800	Active TSS	Pancreas	Pancrea
30	chr1:150550000-150553000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:150550200-150552200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr1:150550200-150552400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:150550200-150552400	Active TSS	Primary T cells from cord blood	blood
34	chr1:150550200-150552800	Active TSS	Liver	Liver
35	chr1:150550400-150552400	Active TSS	HSMMtube	muscle
36	chr1:150550400-150552600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:150550400-150552800	Active TSS	Right Ventricle	heart
38	chr1:150550600-150552600	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:150550800-150552200	Active TSS	Fetal Thymus	thymus
40	chr1:150550800-150553000	Active TSS	GM12878-XiMat	blood
41	chr1:150551000-150552400	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:150551000-150552400	Active TSS	Primary B cells from cord blood	blood
43	chr1:150551000-150552400	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:150551000-150552400	Active TSS	Hela-S3	cervix
45	chr1:150551000-150552400	Active TSS	HMEC	breast
46	chr1:150551000-150552400	Active TSS	HUVEC	blood vessel
47	chr1:150551000-150552600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:150551000-150552600	Active TSS	Fetal Muscle Trunk	muscle
49	chr1:150551000-150553000	Active TSS	Colonic Mucosa	Colon
50	chr1:150551000-150553000	Active TSS	HSMM	muscle

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