Variant report

Variant	rs36227194
Chromosome Location	chr2:87017989-87017990
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr2:87017074-87019173	H1-hESC	embryonic stem cell:	n/a	chr2:87019052-87019065 chr2:87018853-87018864
2	E2F6	chr2:87015696-87018252	H1-hESC	embryonic stem cell:	n/a	chr2:87016417-87016429 chr2:87018082-87018091
3	E2F6	chr2:87017222-87018235	H1-hESC	embryonic stem cell:	n/a	chr2:87018082-87018091
4	SUZ12	chr2:87015893-87019035	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr2:87017499-87019101	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr2:87017149-87018211	H1-hESC	embryonic stem cell:	n/a	chr2:87017413-87017422
7	MAX	chr2:87015828-87018227	H1-hESC	embryonic stem cell:	n/a	chr2:87016930-87016940 chr2:87017413-87017422
8	JUND	chr2:87017924-87018942	H1-hESC	embryonic stem cell:	n/a	chr2:87018081-87018090 chr2:87018627-87018635
9	MAX	chr2:87017464-87018146	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87017953-87018003	Caco-2	colon:	n/a
2	chr2:87017953-87018003	NH-A	brain:	n/a
3	chr2:87017953-87018003	HCM	heart:	n/a
4	chr2:87017953-87018003	SK-N-SH_RA	brain:	n/a
5	chr2:87017953-87018003	AG10803	skin:	n/a
6	chr2:87017953-87018003	AoSMC	blood vessel:	n/a
7	chr2:87017953-87018003	U87	brain:	n/a
8	chr2:87017953-87018003	HRPEpiC	eye:	n/a
9	chr2:87017953-87018003	RPTEC	kidney:	n/a
10	chr2:87017953-87018003	HUVEC	blood vessel:	n/a
11	chr2:87017953-87018003	GM19239	blood:	n/a
12	chr2:87017953-87018003	MCF-7	breast:	n/a
13	chr2:87017953-87018003	HNPCEpiC	eye:	n/a
14	chr2:87017953-87018003	Hepatocyte	liver:	n/a
15	chr2:87017953-87018003	AG04450	lung:	fetal
16	chr2:87017953-87018003	HepG2	liver:	n/a
17	chr2:87017953-87018003	T-47D	breast:	n/a
18	chr2:87017953-87018003	Hela-S3	cervix:	n/a
19	chr2:87017953-87018003	NB4	blood:	n/a
20	chr2:87017953-87018003	SK-N-MC	brain:	n/a
21	chr2:87017953-87018003	GM12892	blood:	n/a
22	chr2:87017953-87018003	LNCaP	prostate:	n/a
23	chr2:87017953-87018003	HRE	kidney:	n/a
24	chr2:87017953-87018003	MCF10A-Er-Src	breast:	n/a
25	chr2:87017953-87018003	ovcar-3	ovarian:	n/a
26	chr2:87017953-87018003	AG09319	gingival:	n/a
27	chr2:87017953-87018003	CMK	blood:	n/a
28	chr2:87017953-87018003	IMR90	lung:	fetal
29	chr2:87017953-87018003	HRCEpiC	kidney:	n/a
30	chr2:87017953-87018003	SK-N-SH	brain:	n/a
31	chr2:87017953-87018003	K562	blood:	n/a
32	chr2:87017953-87018003	GM12891	blood:	n/a
33	chr2:87017953-87018003	ProgFib	skin:	n/a
34	chr2:87017953-87018003	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:87017953-87018003	NT2-D1	testis:	n/a
36	chr2:87017953-87018003	HMEC	breast:	n/a
37	chr2:87017953-87018003	SAEC	small airway:	n/a
38	chr2:87017953-87018003	H1-hESC	embryonic stem cell:	embryo
39	chr2:87017953-87018003	HIPEpiC	eye:	n/a
40	chr2:87017953-87018003	HAEpiC	amniotic membrane:	n/a
41	chr2:87017953-87018003	HCT-116	colon:	n/a
42	chr2:87017953-87018003	HCPEpiC	choroid plexus:	n/a
43	chr2:87017953-87018003	GM06990	blood:	n/a
44	chr2:87017953-87018003	ECC-1	luminal epithelium:	n/a
45	chr2:87017953-87018003	BJ	skin:	n/a
46	chr2:87017953-87018003	PrEC	prostate:	n/a
47	chr2:87017953-87018003	AG09309	skin:	n/a
48	chr2:87017953-87018003	NHDF-neo	bronchial:	n/a
49	chr2:87017953-87018003	Jurkat	blood:	n/a
50	chr2:87017953-87018003	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
CD8A	TF binding region
CD8A	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13411320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13423040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2367369	1.00[EUR][1000 genomes]
rs2367370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2886957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4319929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003000	0.87[EUR][1000 genomes]
rs56061957	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62146062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62146064	1.00[EUR][1000 genomes]
rs62146076	0.87[EUR][1000 genomes]
rs62146077	0.87[EUR][1000 genomes]
rs62146081	0.87[EUR][1000 genomes]
rs7563485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87014800-87018200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr2:87015000-87018400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr2:87015600-87018800	Bivalent Enhancer	Fetal Brain Male	brain
4	chr2:87016000-87018000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
5	chr2:87016000-87018200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:87016000-87018200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr2:87016000-87018400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:87016000-87018600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:87016000-87018600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
10	chr2:87016000-87019000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr2:87016200-87018000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:87016200-87018200	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr2:87016200-87018600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr2:87016200-87018600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:87016200-87018600	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr2:87016400-87018400	Bivalent Enhancer	Fetal Heart	heart
17	chr2:87016400-87018400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr2:87016600-87018000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:87016600-87018000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:87016600-87018000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr2:87016600-87018200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr2:87016800-87018000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:87016800-87018200	Enhancers	Gastric	stomach
24	chr2:87016800-87019000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr2:87017000-87018200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:87017000-87018200	Bivalent Enhancer	Fetal Lung	lung
27	chr2:87017000-87018200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr2:87017200-87018000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:87017200-87018200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr2:87017200-87018200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr2:87017200-87018600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:87017200-87018800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:87017200-87018800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:87017200-87019000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:87017200-87019000	Bivalent Enhancer	Lung	lung
36	chr2:87017400-87018000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr2:87017400-87018000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr2:87017400-87018000	Bivalent Enhancer	Brain Hippocampus Middle	brain
39	chr2:87017400-87018000	Flanking Active TSS	Right Ventricle	heart
40	chr2:87017400-87018200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr2:87017400-87018200	Active TSS	Right Atrium	heart
42	chr2:87017400-87018400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:87017400-87018400	Bivalent Enhancer	HUVEC	blood vessel
44	chr2:87017400-87018600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:87017400-87019000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr2:87017400-87019000	Bivalent Enhancer	Placenta	Placenta
47	chr2:87017400-87019200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:87017600-87018000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:87017600-87018000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:87017600-87018000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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