Variant report

Variant	rs144167220
Chromosome Location	chr2:168149079-168149080
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	MAX	chr2:168148912-168149119	K562	blood:	n/a	n/a
2	MAX	chr2:168148809-168150359	ECC-1	luminal epithelium:	n/a	chr2:168149920-168149930
3	CTCF	chr2:168148937-168149150	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:168148940-168149090	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr2:168148960-168149110	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr2:168148879-168150319	H1-neurons	neurons:	n/a	n/a
7	MAX	chr2:168148863-168150252	ECC-1	luminal epithelium:	n/a	chr2:168149920-168149930
8	CTCF	chr2:168148980-168149130	AG04449	skin:	n/a	n/a
9	MAX	chr2:168148849-168150342	H1-hESC	embryonic stem cell:	n/a	chr2:168149920-168149930
10	POLR2A	chr2:168149016-168149735	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:168149040-168149190	GM12878	blood:	n/a	n/a
12	CTCF	chr2:168148984-168149087	GM10248	blood:	n/a	n/a
13	CTCF	chr2:168148949-168149103	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr2:168149000-168149150	GM12865	blood:	n/a	n/a
15	CTCF	chr2:168149000-168149150	HMEC	breast:	n/a	n/a
16	CTCF	chr2:168148960-168149110	GM06990	blood:	n/a	n/a
17	POLR2A	chr2:168149006-168149531	ProgFib	skin:	n/a	n/a
18	CTCF	chr2:168148940-168149090	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr2:168149000-168149150	AG04450	lung:	n/a	n/a
20	CTCF	chr2:168148950-168149097	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr2:168148834-168149214	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:168148940-168149090	HEK293	kidney:	n/a	n/a
23	CTCF	chr2:168148940-168149090	HCM	heart:	n/a	n/a
24	CTCF	chr2:168148940-168149090	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr2:168148894-168149154	Gliobla	brain:	n/a	n/a
26	CTCF	chr2:168148940-168149090	RPTEC	kidney:	n/a	n/a
27	CTCF	chr2:168148973-168149091	GM13977	blood:	n/a	n/a
28	CTCF	chr2:168148980-168149130	GM12868	blood:	n/a	n/a
29	MAZ	chr2:168148780-168150120	IMR90	lung:	n/a	chr2:168149920-168149930
30	CTCF	chr2:168149020-168149170	GM12871	blood:	n/a	n/a
31	CTCF	chr2:168148940-168149090	GM12864	blood:	n/a	n/a
32	CHD1	chr2:168148448-168150272	IMR90	lung:	n/a	chr2:168149149-168149159 chr2:168149142-168149152
33	CTCF	chr2:168148780-168150935	SK-N-SH	brain:	n/a	chr2:168150000-168150013 chr2:168150670-168150683 chr2:168150003-168150016 chr2:168150581-168150594
34	ZNF143	chr2:168148892-168149659	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:168149000-168149150	BJ	skin:	n/a	n/a
36	CTCF	chr2:168148980-168149130	SAEC	small airway:	n/a	n/a
37	CTBP2	chr2:168148930-168150858	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr2:168148940-168149090	HRPEpiC	eye:	n/a	n/a
39	JUND	chr2:168148857-168149339	H1-hESC	embryonic stem cell:	n/a	chr2:168149141-168149150
40	CTCF	chr2:168148812-168149131	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:168148960-168149110	BE2_C	brain:	n/a	n/a
42	ZNF143	chr2:168148976-168149179	GM12878	blood:	n/a	n/a
43	MAX	chr2:168148838-168149697	SK-N-SH	brain:	n/a	n/a
44	CREB1	chr2:168148832-168149649	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr2:168149016-168149742	GM12878	blood:	n/a	n/a
46	REST	chr2:168148722-168150445	H1-neurons	neurons:	n/a	chr2:168150408-168150422 chr2:168149579-168149592 chr2:168149874-168149887 chr2:168150292-168150300 chr2:168149579-168149592
47	CTCF	chr2:168148914-168149179	NHEK	skin:	n/a	n/a
48	CTCF	chr2:168148960-168149110	GM12864	blood:	n/a	n/a
49	E2F6	chr2:168148744-168149608	A549	lung:	n/a	chr2:168149476-168149485 chr2:168149553-168149563 chr2:168149344-168149353 chr2:168149142-168149151 chr2:168149559-168149569
50	POLR2A	chr2:168148771-168149609	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:168144344..168146504-chr2:168147562..168149498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228222	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3412741	chr2:168148456-168151654	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168148400-168150600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:168148600-168149200	Active TSS	Brain Germinal Matrix	brain
3	chr2:168148600-168149600	Active TSS	Primary hematopoietic stem cells	blood
4	chr2:168148600-168149800	Active TSS	Muscle Satellite Cultured Cells	--
5	chr2:168148600-168149800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:168148600-168149800	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:168148600-168149800	Bivalent/Poised TSS	HUVEC	blood vessel
8	chr2:168148600-168150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:168148600-168150000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:168148600-168150200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:168148600-168150200	Active TSS	NH-A	brain
12	chr2:168148600-168150600	Active TSS	Right Atrium	heart
13	chr2:168148600-168150800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:168148600-168150800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:168148600-168150800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:168148600-168151600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:168148600-168151600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:168148600-168151800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:168148600-168151800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:168148600-168151800	Active TSS	Brain Hippocampus Middle	brain
21	chr2:168148600-168151800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:168148600-168151800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:168148600-168151800	Active TSS	NHLF	lung
24	chr2:168148600-168152000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:168148600-168152000	Active TSS	Brain Anterior Caudate	brain
26	chr2:168148600-168152200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:168148800-168149200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
28	chr2:168148800-168149200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:168148800-168149200	Active TSS	Fetal Muscle Trunk	muscle
30	chr2:168148800-168149200	Active TSS	Fetal Stomach	stomach
31	chr2:168148800-168149200	Enhancers	Lung	lung
32	chr2:168148800-168149200	Bivalent/Poised TSS	GM12878-XiMat	blood
33	chr2:168148800-168149200	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr2:168148800-168149600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:168148800-168149600	Active TSS	HMEC	breast
36	chr2:168148800-168149800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:168148800-168149800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:168148800-168149800	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:168148800-168149800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:168148800-168149800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:168148800-168149800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:168148800-168149800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:168148800-168149800	Active TSS	Adipose Nuclei	Adipose
44	chr2:168148800-168149800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:168148800-168149800	Active TSS	Fetal Muscle Leg	muscle
46	chr2:168148800-168149800	Active TSS	Ovary	ovary
47	chr2:168148800-168149800	Active TSS	Pancreas	Pancrea
48	chr2:168148800-168149800	Bivalent/Poised TSS	Thymus	Thymus
49	chr2:168148800-168149800	Active TSS	Spleen	Spleen
50	chr2:168148800-168149800	Bivalent/Poised TSS	A549	lung

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