Variant report

Variant	rs12734685
Chromosome Location	chr1:154475210-154475211
allele	C/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	USF1	chr1:154474947-154475408	H1-hESC	embryonic stem cell:	n/a	chr1:154475165-154475174 chr1:154475165-154475174 chr1:154475164-154475173 chr1:154475043-154475059 chr1:154475163-154475176 chr1:154475159-154475180 chr1:154474975-154474991 chr1:154475094-154475110
2	E2F6	chr1:154474013-154475849	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
3	MAX	chr1:154474862-154475636	HUVEC	blood vessel:	n/a	chr1:154475552-154475562 chr1:154475484-154475493 chr1:154475160-154475179 chr1:154475164-154475175
4	POLR2A	chr1:154475065-154475241	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:154474033-154475830	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
6	MYC	chr1:154475028-154475387	H1-hESC	embryonic stem cell:	n/a	chr1:154475160-154475179 chr1:154475164-154475175
7	MXI1	chr1:154474997-154475323	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr1:154474027-154475856	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
9	TEAD4	chr1:154475039-154475651	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr1:154475185-154475538	ECC-1	luminal epithelium:	n/a	chr1:154475484-154475493
11	GTF2F1	chr1:154475046-154475533	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF1	chr1:154475016-154475357	SK-N-SH	brain:	n/a	chr1:154475165-154475174 chr1:154475165-154475174 chr1:154475164-154475173 chr1:154475043-154475059 chr1:154475163-154475176 chr1:154475159-154475180 chr1:154475094-154475110
13	MAX	chr1:154474923-154475703	H1-hESC	embryonic stem cell:	n/a	chr1:154475552-154475562 chr1:154475484-154475493 chr1:154475160-154475179 chr1:154475164-154475175
14	MYC	chr1:154475164-154475270	HUVEC	blood vessel:	n/a	chr1:154475164-154475175
15	POLR2A	chr1:154474018-154475497	HUVEC	blood vessel:	n/a	n/a
16	USF1	chr1:154474872-154475466	H1-hESC	embryonic stem cell:	n/a	chr1:154475165-154475174 chr1:154475165-154475174 chr1:154475164-154475173 chr1:154475043-154475059 chr1:154475163-154475176 chr1:154475159-154475180 chr1:154474975-154474991 chr1:154475094-154475110
17	POLR2A	chr1:154474268-154475404	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:154474423-154475558	HUVEC	blood vessel:	n/a	n/a
19	USF2	chr1:154474937-154475365	H1-hESC	embryonic stem cell:	n/a	chr1:154475165-154475174 chr1:154475165-154475174 chr1:154475164-154475173 chr1:154475043-154475059 chr1:154475163-154475176 chr1:154475159-154475180 chr1:154474975-154474991 chr1:154475094-154475110
20	USF1	chr1:154474929-154475314	SK-N-SH_RA	brain:	n/a	chr1:154475165-154475174 chr1:154475165-154475174 chr1:154475164-154475173 chr1:154475043-154475059 chr1:154475163-154475176 chr1:154475159-154475180 chr1:154474975-154474991 chr1:154475094-154475110
21	JUN	chr1:154475060-154475282	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr1:154473973-154475840	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
23	POLR2A	chr1:154473755-154475537	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:154474978-154475265	H1-neurons	neurons:	n/a	n/a
25	SP1	chr1:154475189-154475530	H1-hESC	embryonic stem cell:	n/a	chr1:154475428-154475437 chr1:154475400-154475414 chr1:154475399-154475411 chr1:154475426-154475438 chr1:154475426-154475438 chr1:154475427-154475436 chr1:154475401-154475410 chr1:154475400-154475409 chr1:154475399-154475410 chr1:154475399-154475411 chr1:154475400-154475409

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154475173-154475223	HEEpiC	esophagus:	n/a
2	chr1:154475173-154475223	SK-N-SH	brain:	n/a
3	chr1:154475173-154475223	RPTEC	kidney:	n/a
4	chr1:154475173-154475223	AG09309	skin:	n/a
5	chr1:154475173-154475223	SK-N-MC	brain:	n/a
6	chr1:154475173-154475223	HCF	heart:	n/a
7	chr1:154475173-154475223	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:154475173-154475223	HCM	heart:	n/a
9	chr1:154475173-154475223	GM12878	blood:	n/a
10	chr1:154475173-154475223	ovcar-3	ovarian:	n/a
11	chr1:154475173-154475223	MCF-7	breast:	n/a
12	chr1:154475173-154475223	Jurkat	blood:	n/a
13	chr1:154475173-154475223	H1-hESC	embryonic stem cell:	embryo
14	chr1:154475173-154475223	PrEC	prostate:	n/a
15	chr1:154475173-154475223	NT2-D1	testis:	n/a
16	chr1:154475173-154475223	NB4	blood:	n/a
17	chr1:154475173-154475223	HIPEpiC	eye:	n/a
18	chr1:154475173-154475223	HL-60	blood:	n/a
19	chr1:154475173-154475223	HRE	kidney:	n/a
20	chr1:154475173-154475223	AG09319	gingival:	n/a
21	chr1:154475173-154475223	U87	brain:	n/a
22	chr1:154475173-154475223	NHDF-neo	bronchial:	n/a
23	chr1:154475173-154475223	GM19239	blood:	n/a
24	chr1:154475173-154475223	HAEpiC	amniotic membrane:	n/a
25	chr1:154475173-154475223	SAEC	small airway:	n/a
26	chr1:154475173-154475223	HCT-116	colon:	n/a
27	chr1:154475173-154475223	CMK	blood:	n/a
28	chr1:154475173-154475223	NHBE	bronchial:	n/a
29	chr1:154475173-154475223	HNPCEpiC	eye:	n/a
30	chr1:154475173-154475223	IMR90	lung:	fetal
31	chr1:154475173-154475223	GM12891	blood:	n/a
32	chr1:154475173-154475223	HRPEpiC	eye:	n/a
33	chr1:154475173-154475223	AG10803	skin:	n/a
34	chr1:154475173-154475223	HCPEpiC	choroid plexus:	n/a
35	chr1:154475173-154475223	K562	blood:	n/a
36	chr1:154475173-154475223	HepG2	liver:	n/a
37	chr1:154475173-154475223	Hepatocyte	liver:	n/a
38	chr1:154475173-154475223	AG04449	skin:	fetal
39	chr1:154475173-154475223	HEK293	kidney:	embryo
40	chr1:154475173-154475223	ProgFib	skin:	n/a
41	chr1:154475173-154475223	GM06990	blood:	n/a
42	chr1:154475173-154475223	A549	lung:	n/a
43	chr1:154475173-154475223	HMEC	breast:	n/a
44	chr1:154475173-154475223	MCF10A-Er-Src	breast:	n/a
45	chr1:154475173-154475223	T-47D	breast:	n/a
46	chr1:154475173-154475223	PFSK-1	brain:	n/a
47	chr1:154475173-154475223	HUVEC	blood vessel:	n/a
48	chr1:154475173-154475223	BJ	skin:	n/a
49	chr1:154475173-154475223	SK-N-SH_RA	brain:	n/a
50	chr1:154475173-154475223	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:

Variant related genes	Relation type
SHE	TF binding region
TDRD10	TF binding region
TDRD10	CpG island
SHE	CpG island
ENSG00000160714	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	esv3424713	chr1:154473153-154475701	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3414034	chr1:154473478-154476776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv1822921	chr1:154474131-154495697	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv547950	chr1:154474233-154480318	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv547953	chr1:154474284-154480485	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3375928	chr1:154474353-154476901	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154471200-154475400	Active TSS	Right Atrium	heart
2	chr1:154472200-154475400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:154472200-154475400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:154472400-154475400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
5	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:154473400-154475400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr1:154473800-154475400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:154473800-154475400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:154473800-154475400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:154473800-154475400	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr1:154473800-154475400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr1:154473800-154475400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr1:154474000-154475400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154474000-154475400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:154474000-154475400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:154474000-154475400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:154474000-154475400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:154474000-154475400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:154474000-154475400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:154474000-154475600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:154474200-154475400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:154474200-154475400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr1:154474200-154475400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
29	chr1:154474200-154475400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:154474200-154475600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:154474400-154475600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:154474400-154475600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr1:154474600-154475400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr1:154474600-154475400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr1:154474600-154475400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:154474600-154475400	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr1:154474800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr1:154474800-154475600	Enhancers	Pancreas	Pancrea
39	chr1:154475000-154475400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr1:154475000-154475400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:154475000-154475400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
42	chr1:154475000-154475400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr1:154475000-154475400	Bivalent Enhancer	Placenta	Placenta
44	chr1:154475000-154475400	Flanking Active TSS	Lung	lung
45	chr1:154475000-154475600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:154475000-154475600	Bivalent Enhancer	Fetal Brain Male	brain
47	chr1:154475000-154475600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr1:154475000-154475600	Flanking Active TSS	Right Ventricle	heart
49	chr1:154475000-154475800	ZNF genes & repeats	Spleen	Spleen
50	chr1:154475200-154475400	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell

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