Variant report

Variant	esv3326717
Chromosome Location	chr2:152349926-152351908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:152350353-152350477	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152347893..152350567-chr2:152361417..152364168,2	K562	blood:
2	chr2:152351759..152353707-chr2:152360537..152362140,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFAIP6-6	chr2:152351489-152351840	NONHSAT074959
2	lnc-TNFAIP6-6	chr2:152351743-152351840	NONHSAT074958

No data

Variant related genes	Relation type
RIF1	TF binding region
NEB	TF binding region
ENSG00000183091	chromatin interactions
ENSG00000080345	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112687345	chr2:152349961-152349962	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537033983	chr2:152349994-152349995	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557288737	chr2:152350003-152350004	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs185489270	chr2:152350035-152350036	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190419780	chr2:152350055-152350056	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536694687	chr2:152350092-152350093	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553510261	chr2:152350110-152350111	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182556846	chr2:152350113-152350114	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541272208	chr2:152350135-152350136	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557748180	chr2:152350139-152350140	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554120506	chr2:152350143-152350144	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373164962	chr2:152350151-152350152	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539588988	chr2:152350178-152350179	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551850470	chr2:152350196-152350197	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563269120	chr2:152350224-152350225	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376478761	chr2:152350289-152350290	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200057961	chr2:152350299-152350300	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs202149495	chr2:152350300-152350301	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201445278	chr2:152350302-152350303	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201291446	chr2:152350311-152350312	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542275170	chr2:152350312-152350313	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372863074	chr2:152350323-152350324	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201243201	chr2:152350329-152350330	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376664167	chr2:152350338-152350339	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371270146	chr2:152350346-152350347	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113290650	chr2:152350383-152350384	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs113565762	chr2:152350384-152350385	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs528660946	chr2:152350405-152350406	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs373360468	chr2:152350416-152350417	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs567646712	chr2:152350417-152350418	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs4664455	chr2:152350462-152350463	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs148275764	chr2:152350465-152350466	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs550991910	chr2:152350485-152350486	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534213069	chr2:152350627-152350628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377552363	chr2:152350634-152350635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200484073	chr2:152350636-152350637	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370262770	chr2:152350651-152350652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567607576	chr2:152350653-152350654	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202048855	chr2:152350675-152350676	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536684179	chr2:152350676-152350677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199558093	chr2:152350677-152350678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141240053	chr2:152350680-152350681	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201566336	chr2:152350684-152350685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200544122	chr2:152350685-152350686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201286491	chr2:152350690-152350691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1063573	chr2:152350710-152350711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555445835	chr2:152350726-152350727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199937246	chr2:152350734-152350735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398124169	chr2:152350745-152350746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111288905	chr2:152350769-152350770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
3	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
5	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:152332000-152350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:152332400-152350800	Weak transcription	NHDF-Ad	bronchial
8	chr2:152336800-152355000	Strong transcription	Fetal Muscle Leg	muscle
9	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
10	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:152339400-152350800	Weak transcription	A549	lung
13	chr2:152339600-152354400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:152339800-152350400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:152340400-152350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:152340600-152364600	Weak transcription	HepG2	liver
18	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:152341400-152350200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:152341600-152353400	Weak transcription	NHEK	skin
21	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
22	chr2:152341800-152350000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:152341800-152350400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:152341800-152350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:152341800-152364400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:152342200-152355000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:152342400-152353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:152342600-152350200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:152342600-152352600	Weak transcription	Lung	lung
30	chr2:152342800-152350600	Weak transcription	Fetal Thymus	thymus
31	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:152343000-152360800	Weak transcription	Psoas Muscle	Psoas
33	chr2:152343000-152365200	Weak transcription	Fetal Lung	lung
34	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
35	chr2:152343400-152355000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:152343400-152366800	Weak transcription	Dnd41	blood
37	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:152343600-152362400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:152344000-152366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:152345000-152352800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:152346200-152370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:152347200-152362800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:152347800-152350600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:152347800-152351000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:152348000-152364400	Weak transcription	Fetal Stomach	stomach
48	chr2:152348400-152350800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:152348600-152350000	Strong transcription	HSMM	muscle
50	chr2:152348600-152350600	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links