Variant report

Variant	rs35661734
Chromosome Location	chr1:150551295-150551296
allele	A/G
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	ELK1	chr1:150550896-150551340	GM12878	blood:	n/a	n/a
2	MAX	chr1:150550776-150552336	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr1:150550889-150551311	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr1:150550789-150552538	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr1:150546850-150552818	GM12878	blood:	n/a	n/a
6	ETS1	chr1:150551103-150552235	K562	blood:	n/a	chr1:150552017-150552028 chr1:150552072-150552082 chr1:150552068-150552083 chr1:150552071-150552080 chr1:150552014-150552025
7	TAF1	chr1:150550668-150552520	H1-neurons	neurons:	n/a	n/a
8	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
9	MXI1	chr1:150550958-150552172	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr1:150550842-150551628	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:150550798-150552753	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:150550120-150552171	GM12891	blood:	n/a	n/a
13	JUND	chr1:150550985-150551386	A549	lung:	n/a	chr1:150551164-150551175
14	POLR2A	chr1:150550628-150552269	HL-60	blood:	n/a	n/a
15	FOSL2	chr1:150550840-150551484	MCF-7	breast:	n/a	chr1:150551163-150551174
16	CHD2	chr1:150551012-150552573	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr1:150550725-150552482	A549	lung:	n/a	n/a
18	ELF1	chr1:150550837-150552499	GM12878	blood:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
19	ATF2	chr1:150550029-150552184	H1-hESC	embryonic stem cell:	n/a	chr1:150551735-150551749
20	ZNF143	chr1:150551226-150552229	Hela-S3	cervix:	n/a	n/a
21	SRF	chr1:150550634-150552910	MCF-7	breast:	n/a	chr1:150551994-150552009 chr1:150552167-150552185 chr1:150552169-150552187 chr1:150552172-150552189 chr1:150552170-150552185
22	YY1	chr1:150550954-150552205	K562	blood:	n/a	chr1:150552017-150552026 chr1:150552015-150552029 chr1:150552014-150552025 chr1:150552014-150552023 chr1:150552009-150552023
23	POLR2A	chr1:150550237-150552750	GM19099	blood:	n/a	n/a
24	POLR2A	chr1:150546864-150552806	GM18505	blood:	n/a	n/a
25	SIN3AK20	chr1:150550861-150551320	PFSK-1	brain:	n/a	n/a
26	SIN3AK20	chr1:150550672-150552836	HCT-116	colon:	n/a	n/a
27	ZKSCAN1	chr1:150550788-150552743	Hela-S3	cervix:	n/a	n/a
28	SIN3AK20	chr1:150550729-150552540	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr1:150551146-150552596	Gliobla	brain:	n/a	n/a
30	CREB1	chr1:150550768-150552671	H1-hESC	embryonic stem cell:	n/a	n/a
31	RELA	chr1:150550817-150552622	GM18951	blood:	n/a	n/a
32	POLR2A	chr1:150550168-150552761	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr1:150551055-150551481	HepG2	liver:	n/a	n/a
34	RCOR1	chr1:150550831-150551573	K562	blood:	n/a	n/a
35	CREB1	chr1:150551121-150552503	A549	lung:	n/a	n/a
36	REST	chr1:150549530-150553038	H1-neurons	neurons:	n/a	chr1:150552093-150552101
37	FOSL2	chr1:150550462-150552671	A549	lung:	n/a	chr1:150551163-150551174
38	TEAD4	chr1:150549117-150552737	K562	blood:	n/a	n/a
39	ELK1	chr1:150550742-150552648	Hela-S3	cervix:	n/a	n/a
40	YY1	chr1:150550886-150551972	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:150550660-150553289	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:150550505-150553020	K562	blood:	n/a	n/a
43	POLR2A	chr1:150538889-150552727	K562	blood:	n/a	n/a
44	TAF1	chr1:150550852-150552627	ECC-1	luminal epithelium:	n/a	n/a
45	HA-E2F1	chr1:150550837-150552233	MCF-7	breast:	n/a	chr1:150552188-150552198 chr1:150552015-150552025
46	POLR2A	chr1:150549143-150552715	HUVEC	blood vessel:	n/a	n/a
47	SP1	chr1:150550618-150552261	H1-hESC	embryonic stem cell:	n/a	chr1:150552185-150552192 chr1:150550692-150550699
48	SIN3AK20	chr1:150550829-150552365	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr1:150551016-150552743	K562	blood:	n/a	n/a
50	RFX5	chr1:150550992-150551426	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150549047..150553046-chr1:150599453..150603954,9	MCF-7	breast:
2	chr1:150550930..150551451-chr14:24899156..24899739,2	Hela-S3	cervix:
3	chr1:150547986..150553838-chr1:150598744..150606232,19	K562	blood:
4	chr1:150551039..150551699-chr14:75745100..75745696,2	Hela-S3	cervix:
5	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
6	chr1:145382753..145383425-chr1:150551211..150551821,2	Hela-S3	cervix:
7	chr1:150551086..150551691-chr12:52446727..52447386,2	Hela-S3	cervix:
8	chr1:150551230..150552170-chr19:15543286..15543786,2	Hela-S3	cervix:
9	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
10	chr1:150550552..150551301-chr10:90639551..90640288,2	Hela-S3	cervix:
11	chr1:46151885..46152645-chr1:150550974..150551785,2	Hela-S3	cervix:
12	chr1:150549499..150551723-chr1:150674236..150676416,2	K562	blood:
13	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
14	chr1:150550795..150551464-chr1:171711300..171711939,2	Hela-S3	cervix:
15	chr1:150336412..150338201-chr1:150550353..150552096,2	MCF-7	breast:
16	chr1:150550688..150552369-chr1:150735871..150738707,2	MCF-7	breast:
17	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
18	chr1:150549206..150551464-chr1:150847559..150850045,2	K562	blood:
19	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
20	chr1:150550706..150553008-chr1:150788888..150791389,2	K562	blood:
21	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
22	chr1:150551029..150551633-chr17:6347058..6347946,2	Hela-S3	cervix:
23	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
24	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
25	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
26	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
27	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:
28	chr1:150550905..150551814-chr11:116643309..116644292,2	Hela-S3	cervix:
29	chr1:150551175..150551879-chr15:52310855..52311822,2	Hela-S3	cervix:
30	chr1:150551042..150551699-chrX:48659303..48660248,2	Hela-S3	cervix:
31	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
32	chr1:150548124..150553459-chr1:150571951..150579395,15	MCF-7	breast:
33	chr1:150551101..150552070-chr16:31190931..31191892,2	Hela-S3	cervix:
34	chr1:150459417..150461989-chr1:150549858..150552620,3	MCF-7	breast:
35	chr1:150549378..150552816-chr1:151028901..151032004,3	K562	blood:
36	chr1:150533902..150534835-chr1:150551162..150552095,2	MCF-7	breast:

Variant related genes	Relation type
MCL1	TF binding region
ENSG00000143420	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000253047	Chromatin interaction
ENSG00000138134	Chromatin interaction
ENSG00000163131	Chromatin interaction
ENSG00000137656	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000129195	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000011451	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000206931	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000094631	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000226645	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000203804	Chromatin interaction

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

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

rs_ID	r²[population]
rs10305748	1.00[AFR][1000 genomes]
rs72656914	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72702577	1.00[AFR][1000 genomes]
rs72702591	1.00[AFR][1000 genomes]
rs72704612	1.00[AFR][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	chr1:150542800-150551600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr1:150543600-150552000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:150543600-150552000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr1:150543600-150552000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:150544200-150551600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
6	chr1:150544600-150551600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr1:150545000-150551400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr1:150545200-150551400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:150545200-150551400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:150545200-150551600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
11	chr1:150545200-150552000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
12	chr1:150545400-150551400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:150545400-150551600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
14	chr1:150545400-150551600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:150545600-150551400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
16	chr1:150545600-150551400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
17	chr1:150546800-150551400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
18	chr1:150546800-150551400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:150546800-150551400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
20	chr1:150546800-150551400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
21	chr1:150546800-150551600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
22	chr1:150546800-150551600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
23	chr1:150546800-150551600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:150546800-150551600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:150546800-150551600	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:150546800-150551600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
27	chr1:150546800-150551600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
28	chr1:150546800-150551600	Transcr. at gene 5' and 3'	NHEK	skin
29	chr1:150547000-150551400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:150547000-150551400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
31	chr1:150547000-150551400	Transcr. at gene 5' and 3'	Osteobl	bone
32	chr1:150547000-150551600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:150547000-150551600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr1:150547000-150551600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
35	chr1:150547000-150551800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
36	chr1:150547200-150551400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
37	chr1:150547200-150551400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
38	chr1:150547200-150551600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:150547200-150551600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:150547200-150551600	Transcr. at gene 5' and 3'	A549	lung
41	chr1:150547200-150551600	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr1:150547600-150551600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:150547600-150552800	Active TSS	Ovary	ovary
44	chr1:150548000-150551400	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
45	chr1:150548200-150552400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:150548200-150552800	Active TSS	Aorta	Aorta
47	chr1:150548400-150551400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
48	chr1:150548600-150553000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:150548800-150552600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:150549000-150551600	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet

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