Variant report

Variant	rs11695337
Chromosome Location	chr2:86831148-86831149
allele	A/C
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	POLR2A	chr2:86831100-86831434	GM12891	blood:	n/a	n/a
2	POLR2A	chr2:86831079-86831344	A549	lung:	n/a	n/a
3	POLR2A	chr2:86831010-86831776	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:86830845-86831635	K562	blood:	n/a	n/a
5	POLR2A	chr2:86830819-86832124	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMND5A-1	chr2:86831130-86831486	ENSG00000228363.1

Variant related genes	Relation type
ENSG00000228363	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13011308	1.00[CHB][hapmap]
rs13424350	1.00[CHB][hapmap]

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	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
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86823200-86842800	Weak transcription	Psoas Muscle	Psoas
2	chr2:86823600-86831200	Weak transcription	HSMMtube	muscle
3	chr2:86824600-86840600	Weak transcription	Fetal Heart	heart
4	chr2:86825400-86849000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:86826800-86831200	Weak transcription	Right Ventricle	heart
6	chr2:86826800-86842000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:86826800-86847800	Weak transcription	NHEK	skin
8	chr2:86827200-86835600	Weak transcription	Brain Germinal Matrix	brain
9	chr2:86828200-86831200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:86828200-86831200	Weak transcription	NHDF-Ad	bronchial
11	chr2:86828200-86847800	Weak transcription	NHLF	lung
12	chr2:86828400-86831800	Strong transcription	Fetal Stomach	stomach
13	chr2:86828800-86831400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:86828800-86836000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:86829000-86833000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:86829000-86845400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:86829200-86831200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:86829200-86831400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:86829200-86833200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:86829200-86833200	Strong transcription	Ovary	ovary
21	chr2:86829200-86833200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:86829200-86835800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:86829400-86831200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:86829400-86831200	Weak transcription	GM12878-XiMat	blood
25	chr2:86829400-86831400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:86829400-86835400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:86829400-86835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:86829400-86848400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:86829400-86849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:86829600-86831200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:86829600-86831200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:86829600-86831200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:86829600-86831200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:86829600-86835200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:86829600-86836000	Weak transcription	Spleen	Spleen
36	chr2:86829600-86846200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:86829800-86831200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:86829800-86831200	Weak transcription	Fetal Thymus	thymus
39	chr2:86829800-86846000	Weak transcription	NH-A	brain
40	chr2:86829800-86849400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:86830000-86832800	Strong transcription	Primary B cells from cord blood	blood
42	chr2:86830000-86833200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:86830000-86839400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:86830000-86846200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:86830000-86848600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:86830200-86831400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr2:86830200-86833600	Weak transcription	Fetal Intestine Small	intestine
48	chr2:86830400-86831800	Strong transcription	Stomach Mucosa	stomach
49	chr2:86830400-86846200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:86830400-86847600	Strong transcription	Rectal Mucosa Donor 29	rectum

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