Variant report

Variant	rs1627163
Chromosome Location	chr2:10954844-10954845
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	CTCF	chr2:10954720-10954870	HBMEC	blood vessel:	n/a	chr2:10954811-10954829
2	CTCF	chr2:10954760-10954910	HA-sp	spinal cord:	n/a	chr2:10954811-10954829
3	CTCF	chr2:10954747-10954916	Gliobla	brain:	n/a	chr2:10954811-10954829
4	CTCF	chr2:10954759-10954886	K562	blood:	n/a	chr2:10954811-10954829
5	CTCF	chr2:10954780-10954930	NB4	blood:	n/a	chr2:10954811-10954829
6	TEAD4	chr2:10954479-10955110	HepG2	liver:	n/a	n/a
7	CTCF	chr2:10954740-10954890	MCF-7	breast:	n/a	chr2:10954811-10954829
8	CTCF	chr2:10954740-10954890	HMF	breast:	n/a	chr2:10954811-10954829
9	CTCF	chr2:10954696-10954916	HUVEC	blood vessel:	n/a	chr2:10954811-10954829
10	CTCF	chr2:10954720-10954870	HUVEC	blood vessel:	n/a	chr2:10954811-10954829
11	CTCF	chr2:10954720-10954870	AG10803	skin:	n/a	chr2:10954811-10954829
12	CTCF	chr2:10954604-10955066	MCF-7	breast:	n/a	chr2:10954811-10954829
13	CTCF	chr2:10954735-10954846	Medullo	brain:	n/a	chr2:10954811-10954829
14	CTCF	chr2:10954780-10954930	HUVEC	blood vessel:	n/a	chr2:10954811-10954829
15	CTCF	chr2:10954780-10954930	SAEC	small airway:	n/a	chr2:10954811-10954829
16	CTCF	chr2:10954735-10954905	Hela-S3	cervix:	n/a	chr2:10954811-10954829
17	POLR2A	chr2:10954760-10955091	HepG2	liver:	n/a	n/a
18	CTCF	chr2:10954760-10954910	Caco-2	colon:	n/a	chr2:10954811-10954829
19	CTCF	chr2:10954780-10954930	RPTEC	kidney:	n/a	chr2:10954811-10954829
20	CTCF	chr2:10954720-10954870	HepG2	liver:	n/a	chr2:10954811-10954829
21	KAP1	chr2:10954645-10954949	U2OS	brain:	n/a	n/a
22	CTCF	chr2:10954740-10954890	SK-N-SH_RA	brain:	n/a	chr2:10954811-10954829
23	TAF1	chr2:10954634-10955158	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr2:10951284-10955286	HepG2	liver:	n/a	n/a
25	CTCF	chr2:10954740-10954890	NHLF	lung:	n/a	chr2:10954811-10954829
26	CTCF	chr2:10954760-10954910	HRPEpiC	eye:	n/a	chr2:10954811-10954829
27	CTCF	chr2:10954740-10954890	AoAF	blood vessel:	n/a	chr2:10954811-10954829
28	CTCF	chr2:10954720-10954950	AG04450	lung:	n/a	chr2:10954811-10954829
29	NFIC	chr2:10954604-10955226	HepG2	liver:	n/a	n/a
30	CTCF	chr2:10954780-10954930	NHDF-neo	bronchial:	n/a	chr2:10954811-10954829
31	CTCF	chr2:10954820-10954970	HEK293	kidney:	n/a	n/a
32	CTCF	chr2:10954740-10954890	HPAF	blood vessel:	n/a	chr2:10954811-10954829
33	CTCF	chr2:10954700-10954850	GM06990	blood:	n/a	chr2:10954811-10954829
34	EP300	chr2:10954217-10955841	SK-N-SH	brain:	n/a	chr2:10955359-10955373
35	CTCF	chr2:10954840-10954990	GM06990	blood:	n/a	n/a
36	HDAC2	chr2:10954641-10955242	HepG2	liver:	n/a	chr2:10954776-10954790
37	CTCF	chr2:10954732-10954912	MCF-7	breast:	n/a	chr2:10954811-10954829
38	CTCF	chr2:10954840-10954990	HVMF	connective:	n/a	n/a
39	RAD21	chr2:10954696-10954955	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr2:10954800-10954950	SK-N-SH_RA	brain:	n/a	chr2:10954811-10954829
41	CTCF	chr2:10954740-10954890	SAEC	small airway:	n/a	chr2:10954811-10954829
42	CTCF	chr2:10954740-10954890	WERI-Rb-1	eye:	n/a	chr2:10954811-10954829
43	MYBL2	chr2:10954480-10955130	HepG2	liver:	n/a	n/a
44	CTCF	chr2:10954720-10954870	HCPEpiC	choroid plexus:	n/a	chr2:10954811-10954829
45	CTCF	chr2:10954760-10954910	A549	lung:	n/a	chr2:10954811-10954829
46	MYC	chr2:10954810-10955104	HepG2	liver:	n/a	n/a
47	CTCF	chr2:10954740-10954890	BJ	skin:	n/a	chr2:10954811-10954829
48	CTCF	chr2:10954820-10954970	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr2:10954720-10954870	BJ	skin:	n/a	chr2:10954811-10954829
50	CTCF	chr2:10954720-10954870	HAc	cerebellar:	n/a	chr2:10954811-10954829

No.	Distal block	Cell Line	Cell type
1	chr2:10954337..10955272-chr2:11269771..11270646,2	MCF-7	breast:
2	chr2:10849041..10849815-chr2:10954294..10955185,3	MCF-7	breast:
3	chr2:10952771..10956477-chr2:10972417..10975728,4	MCF-7	breast:
4	chr2:10829183..10831676-chr2:10953297..10956112,2	MCF-7	breast:

Variant related genes	Relation type
PDIA6	TF binding region
ENSG00000115761	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000143870	Chromatin interaction

rs_ID	r²[population]
rs1106184	0.88[CHB][hapmap]
rs1106185	0.89[ASN][1000 genomes]
rs1106186	0.88[CHB][hapmap]
rs13018915	0.88[CHB][hapmap]
rs1626087	0.88[CHB][hapmap]
rs1686486	0.88[CHB][hapmap]
rs1686487	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs1686497	0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs1734406	0.88[CHB][hapmap]
rs1734409	0.92[ASN][1000 genomes]
rs1734442	0.88[CHB][hapmap]
rs1734443	0.88[CHB][hapmap]
rs1734444	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs17365477	0.84[ASN][1000 genomes]
rs1844387	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2005011	0.89[ASN][1000 genomes]
rs2008967	0.89[ASN][1000 genomes]
rs2969887	0.83[ASN][1000 genomes]

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10953600-10955000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:10953600-10955000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:10953600-10955000	Enhancers	Fetal Intestine Large	intestine
4	chr2:10953600-10955200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:10953600-10955200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10953600-10955200	Enhancers	Placenta	Placenta
7	chr2:10953600-10955600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:10953600-10957800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:10953600-10959200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:10953600-10960800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:10953600-10960800	Weak transcription	Left Ventricle	heart
12	chr2:10953600-10968200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:10953800-10955200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:10953800-10955600	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:10953800-10960800	Weak transcription	Spleen	Spleen
16	chr2:10954200-10955000	Enhancers	A549	lung
17	chr2:10954200-10955200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:10954200-10955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:10954200-10955200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:10954200-10955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:10954200-10955200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:10954200-10955400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:10954200-10955400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:10954200-10955400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr2:10954200-10955600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:10954400-10955000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:10954400-10955000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:10954400-10955200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:10954400-10955200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:10954600-10955000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:10954600-10955000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:10954600-10955000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:10954600-10955000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:10954600-10955000	Enhancers	Fetal Heart	heart
35	chr2:10954600-10955000	Enhancers	Stomach Mucosa	stomach
36	chr2:10954600-10955000	Enhancers	K562	blood
37	chr2:10954600-10955200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:10954600-10955200	Enhancers	Liver	Liver
39	chr2:10954600-10955400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:10954600-10955400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:10954600-10955600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:10954600-10955600	Enhancers	NHDF-Ad	bronchial
43	chr2:10954800-10955000	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:10954800-10955000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:10954800-10955000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:10954800-10955200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:10954800-10955200	Enhancers	Right Atrium	heart
48	chr2:10954800-10955400	Enhancers	HUVEC	blood vessel

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