Variant report

Variant	rs532538246
Chromosome Location	chr2:99442587-99442588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99442537-99442587	GM19239	blood:	n/a
2	chr2:99442537-99442587	HL-60	blood:	n/a
3	chr2:99442537-99442587	RPTEC	kidney:	n/a
4	chr2:99442537-99442587	HEEpiC	esophagus:	n/a
5	chr2:99442537-99442587	HMEC	breast:	n/a
6	chr2:99442537-99442587	GM12891	blood:	n/a
7	chr2:99442537-99442587	MCF10A-Er-Src	breast:	n/a
8	chr2:99442537-99442587	HRE	kidney:	n/a
9	chr2:99442537-99442587	IMR90	lung:	fetal
10	chr2:99442537-99442587	AG04449	skin:	fetal
11	chr2:99442537-99442587	AG10803	skin:	n/a
12	chr2:99442537-99442587	NHBE	bronchial:	n/a
13	chr2:99442537-99442587	AG09319	gingival:	n/a
14	chr2:99442537-99442587	HRPEpiC	eye:	n/a
15	chr2:99442537-99442587	HCPEpiC	choroid plexus:	n/a
16	chr2:99442537-99442587	K562	blood:	n/a
17	chr2:99442537-99442587	HNPCEpiC	eye:	n/a
18	chr2:99442537-99442587	Caco-2	colon:	n/a
19	chr2:99442537-99442587	ovcar-3	ovarian:	n/a
20	chr2:99442537-99442587	SK-N-SH_RA	brain:	n/a
21	chr2:99442537-99442587	AG04450	lung:	fetal
22	chr2:99442537-99442587	MCF-7	breast:	n/a
23	chr2:99442537-99442587	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:99442537-99442587	PFSK-1	brain:	n/a
25	chr2:99442537-99442587	SK-N-SH	brain:	n/a
26	chr2:99442537-99442587	SKMC	muscle:	n/a
27	chr2:99442537-99442587	BJ	skin:	n/a
28	chr2:99442537-99442587	HRCEpiC	kidney:	n/a
29	chr2:99442537-99442587	ECC-1	luminal epithelium:	n/a
30	chr2:99442537-99442587	HUVEC	blood vessel:	n/a
31	chr2:99442537-99442587	SK-N-MC	brain:	n/a
32	chr2:99442537-99442587	HCF	heart:	n/a
33	chr2:99442537-99442587	HCT-116	colon:	n/a
34	chr2:99442537-99442587	HAEpiC	amniotic membrane:	n/a
35	chr2:99442537-99442587	NB4	blood:	n/a
36	chr2:99442537-99442587	H1-hESC	embryonic stem cell:	embryo
37	chr2:99442537-99442587	LNCaP	prostate:	n/a
38	chr2:99442537-99442587	GM12878	blood:	n/a
39	chr2:99442537-99442587	PrEC	prostate:	n/a
40	chr2:99442537-99442587	ProgFib	skin:	n/a
41	chr2:99442537-99442587	AG09309	skin:	n/a
42	chr2:99442537-99442587	HIPEpiC	eye:	n/a
43	chr2:99442537-99442587	CMK	blood:	n/a
44	chr2:99442537-99442587	NHDF-neo	bronchial:	n/a
45	chr2:99442537-99442587	HCM	heart:	n/a
46	chr2:99442537-99442587	GM06990	blood:	n/a
47	chr2:99442537-99442587	AoSMC	blood vessel:	n/a
48	chr2:99442537-99442587	T-47D	breast:	n/a
49	chr2:99442537-99442587	BE2_C	brain:	n/a
50	chr2:99442537-99442587	GM12892	blood:	n/a

No data

Variant related genes	Relation type
KIAA1211L	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
2	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99439600-99442800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:99440000-99443200	Enhancers	HepG2	liver
8	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:99440200-99444000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
12	chr2:99440400-99444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:99440600-99442800	Enhancers	Primary B cells from cord blood	blood
16	chr2:99440600-99444200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:99440600-99445600	Weak transcription	Right Atrium	heart
18	chr2:99440600-99445600	Weak transcription	Spleen	Spleen
19	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:99440600-99449600	Weak transcription	HMEC	breast
21	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:99441000-99442600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:99441000-99445200	Weak transcription	Thymus	Thymus
24	chr2:99441000-99449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:99441200-99444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:99441400-99445200	Weak transcription	HUVEC	blood vessel
27	chr2:99441600-99444000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:99441600-99444200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:99441600-99444200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:99441600-99444200	Weak transcription	Fetal Thymus	thymus
31	chr2:99441800-99444200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:99441800-99444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:99441800-99444200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:99441800-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:99441800-99445600	Weak transcription	Lung	lung
36	chr2:99441800-99446600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:99441800-99449000	Weak transcription	Brain Anterior Caudate	brain
38	chr2:99442000-99442800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:99442000-99443600	Strong transcription	Pancreas	Pancrea
40	chr2:99442000-99443800	Strong transcription	Gastric	stomach
41	chr2:99442000-99443800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:99442000-99444400	Strong transcription	Fetal Intestine Small	intestine
43	chr2:99442200-99442800	Weak transcription	Right Ventricle	heart
44	chr2:99442200-99443000	Strong transcription	Stomach Mucosa	stomach
45	chr2:99442200-99443200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:99442200-99443800	Strong transcription	Esophagus	oesophagus
47	chr2:99442200-99444400	Weak transcription	Primary T cells from cord blood	blood
48	chr2:99442200-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:99442200-99444600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:99442200-99445200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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