Variant report

Variant	rs1200130
Chromosome Location	chr1:169078572-169078573
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	GATA3	chr1:169078114-169079340	T-47D	breast:	n/a	n/a
2	CTCF	chr1:169078540-169078690	HAc	cerebellar:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
3	CTCF	chr1:169078520-169078670	HCM	heart:	n/a	chr1:169078631-169078640
4	RAD21	chr1:169078049-169079393	A549	lung:	n/a	chr1:169078627-169078641
5	CTCF	chr1:169078520-169078670	GM12870	blood:	n/a	chr1:169078631-169078640
6	CTCF	chr1:169078540-169078690	HepG2	liver:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
7	MAZ	chr1:169078529-169079441	HepG2	liver:	n/a	n/a
8	RAD21	chr1:169078140-169078869	A549	lung:	n/a	chr1:169078627-169078641
9	WRNIP1	chr1:169078018-169079251	GM12878	blood:	n/a	n/a
10	CTCF	chr1:169078540-169078690	GM12878	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
11	GATA3	chr1:169077923-169079727	A549	lung:	n/a	n/a
12	CTCF	chr1:169078532-169078741	GM19239	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
13	RAD21	chr1:169077989-169079396	HCT-116	colon:	n/a	chr1:169078627-169078641
14	CTCF	chr1:169078540-169078690	A549	lung:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
15	CTCF	chr1:169078520-169078670	HPF	lung:	n/a	chr1:169078631-169078640
16	CTCF	chr1:169078530-169078750	GM10266	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
17	GATA2	chr1:169078060-169080167	SH-SY5Y	brain:	n/a	n/a
18	CTCF	chr1:169078529-169078744	GM12892	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
19	CTCF	chr1:169078560-169078710	GM12875	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
20	FOSL2	chr1:169078097-169079875	A549	lung:	n/a	chr1:169079384-169079393
21	RAD21	chr1:169078544-169078800	H1-hESC	embryonic stem cell:	n/a	chr1:169078627-169078641
22	CTCF	chr1:169078540-169078690	HA-sp	spinal cord:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
23	RAD21	chr1:169078107-169078855	SK-N-SH_RA	brain:	n/a	chr1:169078627-169078641
24	CTCF	chr1:169078520-169078670	AG10803	skin:	n/a	chr1:169078631-169078640
25	CTCF	chr1:169078540-169078690	SK-N-SH_RA	brain:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
26	CTCF	chr1:169078486-169078720	K562	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
27	CTCF	chr1:169078564-169078704	Gliobla	brain:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
28	BCL3	chr1:169078529-169079411	A549	lung:	n/a	n/a
29	CTCF	chr1:169078560-169078710	GM06990	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
30	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
31	CTCF	chr1:169078568-169078706	MCF-7	breast:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
32	CTCF	chr1:169078540-169078690	GM12870	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
33	SP1	chr1:169078054-169079801	A549	lung:	n/a	chr1:169078121-169078128 chr1:169079011-169079021 chr1:169079007-169079021 chr1:169078205-169078212 chr1:169079011-169079020
34	MAZ	chr1:169078121-169079352	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr1:169078164-169079347	HepG2	liver:	n/a	chr1:169078627-169078641
36	ZNF143	chr1:169078255-169078820	GM12878	blood:	n/a	n/a
37	MAFK	chr1:169076363-169078735	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr1:169078397-169078847	GM12878	blood:	n/a	chr1:169078627-169078641
39	CTCF	chr1:169078516-169078760	GM19238	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
40	CTCF	chr1:169078520-169078670	GM12868	blood:	n/a	chr1:169078631-169078640
41	MAX	chr1:169078505-169078682	GM12878	blood:	n/a	n/a
42	RAD21	chr1:169078511-169079301	IMR90	lung:	n/a	chr1:169078627-169078641
43	CTCF	chr1:169078540-169078690	HRE	kidney:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
44	CTCF	chr1:169078540-169078690	GM12869	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
45	CTCF	chr1:169078500-169078650	HFF	foreskin:	n/a	chr1:169078631-169078640
46	CTCF	chr1:169078545-169078740	GM10248	blood:	n/a	chr1:169078670-169078678 chr1:169078631-169078640
47	CTCF	chr1:169078500-169078650	GM12864	blood:	n/a	chr1:169078631-169078640
48	RAD21	chr1:169078096-169078841	HepG2	liver:	n/a	chr1:169078627-169078641
49	KAP1	chr1:169078410-169079649	U2OS	brain:	n/a	n/a
50	CTCF	chr1:169078560-169078710	HUVEC	blood vessel:	n/a	chr1:169078670-169078678 chr1:169078631-169078640

No.	Distal block	Cell Line	Cell type
1	chr1:168606767..168607284-chr1:169078088..169078686,2	MCF-7	breast:
2	chr1:169045786..169047308-chr1:169077237..169079576,2	K562	blood:
3	chr1:168907357..168910687-chr1:169076812..169079423,3	MCF-7	breast:
4	chr1:169077517..169079516-chr22:21993938..21996836,2	MCF-7	breast:
5	chr1:169075479..169078672-chr1:169335264..169338570,4	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000213063	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000143156	Chromatin interaction

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

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

rs_ID	r²[population]
rs12751593	0.82[ASN][1000 genomes]
rs1320976	0.80[CHB][hapmap];0.90[CHD][hapmap]
rs28362572	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169074000-169078800	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:169074800-169078800	Active TSS	Brain Substantia Nigra	brain
3	chr1:169074800-169079000	Active TSS	Fetal Kidney	kidney
4	chr1:169074800-169079200	Active TSS	Brain Hippocampus Middle	brain
5	chr1:169074800-169079400	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr1:169074800-169079600	Active TSS	Stomach Mucosa	stomach
7	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
8	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
9	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:169075000-169079200	Active TSS	Esophagus	oesophagus
11	chr1:169075000-169079200	Active TSS	Fetal Intestine Large	intestine
12	chr1:169075000-169079200	Active TSS	Gastric	stomach
13	chr1:169075000-169079400	Active TSS	Colon Smooth Muscle	Colon
14	chr1:169075000-169080000	Active TSS	Brain Anterior Caudate	brain
15	chr1:169075000-169080000	Active TSS	GM12878-XiMat	blood
16	chr1:169075000-169080400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:169075000-169080600	Active TSS	Brain Cingulate Gyrus	brain
18	chr1:169075200-169079400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:169076000-169079400	Active TSS	Right Atrium	heart
20	chr1:169076400-169080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:169076600-169080200	Flanking Active TSS	NH-A	brain
23	chr1:169076600-169080600	Flanking Active TSS	HUVEC	blood vessel
24	chr1:169076800-169078800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:169076800-169078800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:169076800-169079400	Active TSS	Adipose Nuclei	Adipose
27	chr1:169076800-169079600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:169076800-169080000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:169076800-169080400	Active TSS	Brain Angular Gyrus	brain
30	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:169077000-169079000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:169077000-169079200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:169077000-169079800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:169077000-169080000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:169077000-169080200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr1:169077200-169078600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:169077200-169079000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:169077200-169079600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:169077200-169079800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:169077200-169079800	Active TSS	Colonic Mucosa	Colon
41	chr1:169077200-169080000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr1:169077200-169080200	Enhancers	NHDF-Ad	bronchial
43	chr1:169077200-169080600	Enhancers	Fetal Thymus	thymus
44	chr1:169077200-169082800	Weak transcription	Aorta	Aorta
45	chr1:169077200-169085200	Weak transcription	Spleen	Spleen
46	chr1:169077400-169078600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:169077400-169078800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:169077400-169079800	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr1:169077400-169079800	Flanking Active TSS	HMEC	breast
50	chr1:169077400-169079800	Flanking Active TSS	NHLF	lung

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