Variant report

Variant	rs550737032
Chromosome Location	chr1:169074823-169074824
allele	G/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	RAD21	chr1:169074792-169075187	HepG2	liver:	n/a	n/a
2	YY1	chr1:169074717-169076226	HepG2	liver:	n/a	chr1:169075170-169075184 chr1:169076011-169076025 chr1:169075340-169075351 chr1:169075310-169075321 chr1:169075317-169075331 chr1:169075343-169075352 chr1:169074975-169074989 chr1:169075943-169075954 chr1:169075346-169075355 chr1:169076186-169076197 chr1:169075466-169075480
3	POLR2A	chr1:169074795-169076183	HepG2	liver:	n/a	n/a
4	MXI1	chr1:169074806-169075613	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr1:169074631-169075735	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr1:169074725-169075336	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF7	chr1:169074752-169075346	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr1:169074641-169075007	A549	lung:	n/a	chr1:169074804-169074815 chr1:169074805-169074814 chr1:169074800-169074821
9	HDAC2	chr1:169074683-169075234	HepG2	liver:	n/a	n/a
10	TCF12	chr1:169074584-169075322	ECC-1	luminal epithelium:	n/a	chr1:169075044-169075054 chr1:169075253-169075260
11	POLR2A	chr1:169074812-169075788	HepG2	liver:	n/a	n/a
12	RAD21	chr1:169074715-169075144	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:169074816-169076166	HEK293	kidney:	n/a	n/a
14	MAX	chr1:169074604-169075874	HepG2	liver:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
15	POLR2A	chr1:169074617-169076516	GM19193	blood:	n/a	n/a
16	MAX	chr1:169074556-169076383	H1-hESC	embryonic stem cell:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
17	SIN3AK20	chr1:169074606-169077295	MCF-7	breast:	n/a	n/a
18	USF1	chr1:169074610-169075055	A549	lung:	n/a	chr1:169074804-169074815 chr1:169074805-169074814 chr1:169074800-169074821
19	HA-E2F1	chr1:169074633-169076791	MCF-7	breast:	n/a	chr1:169075469-169075479 chr1:169075349-169075358 chr1:169076005-169076019 chr1:169075065-169075074 chr1:169075344-169075354 chr1:169075044-169075054 chr1:169075666-169075675
20	CTCF	chr1:169074820-169074970	HRE	kidney:	n/a	n/a
21	POLR2A	chr1:169074781-169075241	HCT-116	colon:	n/a	n/a
22	CTCF	chr1:169074820-169074970	BE2_C	brain:	n/a	n/a
23	POLR2A	chr1:169074739-169077862	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr1:169074599-169075449	H1-hESC	embryonic stem cell:	n/a	chr1:169075349-169075358 chr1:169075065-169075074 chr1:169075344-169075354 chr1:169075044-169075054
25	RFX5	chr1:169074822-169077754	Hela-S3	cervix:	n/a	chr1:169077634-169077643
26	EP300	chr1:169074558-169076305	ECC-1	luminal epithelium:	n/a	chr1:169075030-169075043 chr1:169075296-169075312 chr1:169076181-169076197 chr1:169076180-169076196 chr1:169076033-169076049 chr1:169075343-169075352
27	CEBPB	chr1:169074743-169075725	HepG2	liver:	n/a	chr1:169074898-169074909
28	MAX	chr1:169074718-169075847	HepG2	liver:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
29	MAX	chr1:169074811-169076108	GM12878	blood:	n/a	chr1:169075667-169075677 chr1:169075347-169075357
30	MAX	chr1:169074502-169076839	A549	lung:	n/a	chr1:169075667-169075677 chr1:169076272-169076282 chr1:169075347-169075357
31	GATA3	chr1:169074637-169076056	MCF-7	breast:	n/a	chr1:169074711-169074722
32	CREB1	chr1:169074714-169076584	HepG2	liver:	n/a	n/a
33	SP1	chr1:169074780-169075325	HepG2	liver:	n/a	chr1:169075071-169075080 chr1:169075066-169075075 chr1:169075069-169075081 chr1:169075061-169075075 chr1:169075197-169075211 chr1:169075064-169075076 chr1:169075065-169075074 chr1:169075069-169075081 chr1:169075064-169075076
34	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:169074786-169076389	A549	lung:	n/a	n/a
36	POLR2A	chr1:169074776-169075839	HepG2	liver:	n/a	n/a
37	CTCF	chr1:169074820-169074970	SAEC	small airway:	n/a	n/a
38	YY1	chr1:169074521-169075196	H1-hESC	embryonic stem cell:	n/a	chr1:169075170-169075184 chr1:169074975-169074989
39	RAD21	chr1:169074796-169075265	SK-N-SH_RA	brain:	n/a	n/a
40	HNF4A	chr1:169074768-169075254	HepG2	liver:	n/a	n/a
41	RUNX3	chr1:169074788-169075251	GM12878	blood:	n/a	n/a
42	ZBTB7A	chr1:169074709-169075996	ECC-1	luminal epithelium:	n/a	chr1:169075276-169075283 chr1:169075791-169075802 chr1:169075732-169075743
43	USF1	chr1:169074607-169075140	ECC-1	luminal epithelium:	n/a	chr1:169075043-169075059 chr1:169074804-169074815 chr1:169074805-169074814 chr1:169074800-169074821
44	BHLHE40	chr1:169074631-169075173	K562	blood:	n/a	chr1:169075043-169075059 chr1:169074805-169074814 chr1:169074800-169074821
45	MAX	chr1:169074630-169075264	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:169074748-169076378	Hela-S3	cervix:	n/a	n/a
47	CTBP2	chr1:169074352-169076271	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:169074820-169074970	AG09319	gingival:	n/a	n/a
49	TCF7L2	chr1:169074796-169076518	HCT-116	colon:	n/a	n/a
50	POLR2A	chr1:169074758-169075825	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169055830..169060702-chr1:169073415..169077056,5	MCF-7	breast:
2	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
3	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
4	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
5	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
6	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000196866	Chromatin interaction
ENSG00000203601	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000161016	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	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
6	esv3323390	chr1:169074353-169076901	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	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	chr1:169072400-169075000	Weak transcription	Aorta	Aorta
2	chr1:169073200-169075000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:169074000-169075000	Enhancers	Fetal Brain Male	brain
4	chr1:169074000-169078800	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:169074200-169075000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:169074200-169075000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:169074400-169075000	Flanking Active TSS	Liver	Liver
8	chr1:169074400-169075000	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr1:169074400-169075000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:169074400-169075000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:169074400-169075000	Flanking Active TSS	Hela-S3	cervix
12	chr1:169074400-169075000	Flanking Active TSS	HepG2	liver
13	chr1:169074400-169075200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:169074400-169075200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:169074400-169075400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:169074400-169075400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:169074400-169075400	Flanking Active TSS	Colonic Mucosa	Colon
18	chr1:169074400-169077400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:169074600-169075000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:169074600-169075000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
22	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
23	chr1:169074600-169075000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr1:169074600-169075000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:169074600-169075000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:169074600-169075000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr1:169074600-169075000	Flanking Active TSS	Fetal Brain Female	brain
30	chr1:169074600-169075000	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr1:169074600-169075000	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr1:169074600-169075000	Weak transcription	Gastric	stomach
36	chr1:169074600-169075000	Flanking Active TSS	Pancreas	Pancrea
37	chr1:169074600-169075000	Flanking Bivalent TSS/Enh	Dnd41	blood
38	chr1:169074600-169075000	Bivalent/Poised TSS	NHLF	lung
39	chr1:169074600-169075200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr1:169074600-169075200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:169074600-169075200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:169074600-169075200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr1:169074600-169075200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:169074600-169075200	Flanking Active TSS	HMEC	breast
45	chr1:169074600-169075200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr1:169074600-169075200	Flanking Bivalent TSS/Enh	Osteobl	bone
47	chr1:169074600-169075400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr1:169074600-169076400	Active TSS	Primary T cells from cord blood	blood
49	chr1:169074600-169077000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:169074600-169077600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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