Variant report

Variant	rs74121676
Chromosome Location	chr1:169454186-169454187
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	FOXA1	chr1:169454102-169454708	HepG2	liver:	n/a	n/a
2	MXI1	chr1:169453845-169456810	SK-N-SH	brain:	n/a	n/a
3	MAX	chr1:169453879-169456142	Hela-S3	cervix:	n/a	n/a
4	MYC	chr1:169454014-169456207	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr1:169454161-169454662	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:169454003-169454711	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:169452374-169456758	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr1:169452668-169456351	Hela-S3	cervix:	n/a	n/a
9	MAX	chr1:169454087-169455842	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:169454132-169454798	Hela-S3	cervix:	n/a	n/a
11	SMC3	chr1:169454134-169456361	Hela-S3	cervix:	n/a	n/a
12	MYC	chr1:169452634-169454733	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr1:169453914-169456288	K562	blood:	n/a	n/a
14	BHLHE40	chr1:169453976-169455852	K562	blood:	n/a	n/a
15	POLR2A	chr1:169454030-169456069	PBDE	blood:	n/a	n/a
16	SIN3AK20	chr1:169452581-169456049	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:169454114-169455827	HL-60	blood:	n/a	n/a
18	CREB1	chr1:169454179-169455787	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:169454050-169456241	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:169453946-169456497	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr1:169454183-169455957	H1-neurons	neurons:	n/a	n/a
22	MXI1	chr1:169454038-169455972	HepG2	liver:	n/a	n/a
23	RFX5	chr1:169454125-169456976	SK-N-SH	brain:	n/a	chr1:169455259-169455268
24	EP300	chr1:169454184-169454631	HepG2	liver:	n/a	chr1:169454531-169454539 chr1:169454451-169454465 chr1:169454317-169454327
25	ZKSCAN1	chr1:169454101-169454637	Hela-S3	cervix:	n/a	n/a
26	MYC	chr1:169454124-169456520	K562	blood:	n/a	n/a
27	CEBPB	chr1:169454065-169454667	K562	blood:	n/a	n/a
28	MAX	chr1:169454135-169455853	HepG2	liver:	n/a	n/a
29	RCOR1	chr1:169454063-169454770	K562	blood:	n/a	n/a
30	MYC	chr1:169454020-169455993	K562	blood:	n/a	n/a
31	HEY1	chr1:169454054-169454824	HepG2	liver:	n/a	chr1:169454753-169454768 chr1:169454781-169454796 chr1:169454742-169454757
32	NFIC	chr1:169454125-169454744	HepG2	liver:	n/a	n/a
33	UBTF	chr1:169453868-169456212	K562	blood:	n/a	n/a
34	HNF4G	chr1:169454183-169454691	HepG2	liver:	n/a	chr1:169454428-169454443 chr1:169454426-169454441 chr1:169454428-169454443
35	MYBL2	chr1:169454092-169454786	HepG2	liver:	n/a	n/a
36	TEAD4	chr1:169454172-169456332	K562	blood:	n/a	n/a
37	POLR2A	chr1:169452526-169456603	MCF10A-Er-Src	breast:	n/a	n/a
38	TBP	chr1:169454082-169454725	HepG2	liver:	n/a	n/a
39	FOXA2	chr1:169454143-169454647	HepG2	liver:	n/a	n/a
40	FOXA1	chr1:169454113-169454596	HepG2	liver:	n/a	n/a
41	RCOR1	chr1:169454036-169456347	K562	blood:	n/a	n/a
42	SMARCB1	chr1:169454167-169455772	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:169451926-169456727	IMR90	lung:	n/a	n/a
44	SIN3AK20	chr1:169454174-169454728	HepG2	liver:	n/a	n/a
45	HCFC1	chr1:169452490-169456441	Hela-S3	cervix:	n/a	n/a
46	CHD1	chr1:169452645-169456936	IMR90	lung:	n/a	chr1:169453020-169453027 chr1:169455009-169455019 chr1:169454476-169454486
47	POLR2A	chr1:169454122-169454794	HepG2	liver:	n/a	n/a
48	MAFK	chr1:169454059-169456359	Hela-S3	cervix:	n/a	chr1:169454537-169454552
49	RCOR1	chr1:169454013-169456166	Hela-S3	cervix:	n/a	n/a
50	TBP	chr1:169454034-169454738	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
2	chr1:169337822..169339719-chr1:169451874..169454199,3	K562	blood:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169338121..169342264-chr1:169451874..169455112,4	K562	blood:
5	chr1:169452217..169454597-chr1:169772651..169775174,2	K562	blood:
6	chr1:169434019..169436756-chr1:169452207..169454585,3	MCF-7	breast:
7	chr1:169325315..169327435-chr1:169453346..169454920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213062	TF binding region
ENSG00000198734	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56874068	0.83[AFR][1000 genomes]
rs74121659	0.84[AFR][1000 genomes]
rs74121677	1.00[AFR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
3	chr1:169446800-169454200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:169446800-169454200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:169448000-169457000	Active TSS	Right Ventricle	heart
6	chr1:169450000-169456000	Active TSS	Psoas Muscle	Psoas
7	chr1:169451600-169457000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:169451800-169455400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:169452000-169454200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:169452200-169456200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:169452400-169454200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:169452400-169454200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:169452400-169454200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:169452400-169454400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:169452400-169454800	Active TSS	Right Atrium	heart
16	chr1:169452600-169454200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:169452600-169454200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:169452600-169454200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:169452600-169454200	Flanking Active TSS	Hela-S3	cervix
20	chr1:169452600-169454400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:169452600-169454400	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr1:169452600-169454600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:169452600-169454600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:169452600-169454600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr1:169452600-169454800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:169452600-169455600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:169452600-169457000	Active TSS	Left Ventricle	heart
28	chr1:169452800-169454200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:169452800-169454200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr1:169452800-169454200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:169452800-169454200	Flanking Active TSS	NHLF	lung
32	chr1:169452800-169454400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:169452800-169454400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr1:169452800-169454400	Flanking Active TSS	NHEK	skin
35	chr1:169452800-169454600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:169452800-169454600	Flanking Active TSS	Dnd41	blood
37	chr1:169452800-169454600	Flanking Active TSS	NH-A	brain
38	chr1:169452800-169455400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:169452800-169455600	Active TSS	HepG2	liver
40	chr1:169452800-169456000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:169452800-169456000	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:169452800-169456200	Active TSS	Ovary	ovary
43	chr1:169453000-169454200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:169453000-169454200	Weak transcription	Gastric	stomach
45	chr1:169453000-169454400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:169453000-169454400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr1:169453000-169454400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:169453000-169454400	Flanking Active TSS	HMEC	breast
49	chr1:169453000-169454400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:169453000-169454600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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