Variant report

Variant	rs6705236
Chromosome Location	chr2:113400771-113400772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:113400575-113400875	HepG2	liver:	n/a	chr2:113400745-113400756
2	SMC3	chr2:113400722-113400810	HepG2	liver:	n/a	n/a
3	JUND	chr2:113400572-113400943	HepG2	liver:	n/a	chr2:113400745-113400756
4	POLR2A	chr2:113400547-113401244	U87	brain:	n/a	n/a
5	POLR2A	chr2:113400625-113401320	U87	brain:	n/a	n/a
6	FOSL2	chr2:113400549-113400987	HepG2	liver:	n/a	n/a
7	RFX5	chr2:113400670-113400812	HepG2	liver:	n/a	n/a
8	JUND	chr2:113400701-113400878	K562	blood:	n/a	chr2:113400745-113400756

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
2	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
3	chr2:113400575..113405879-chr2:113475243..113481233,15	K562	blood:
4	chr2:113358188..113360377-chr2:113398948..113401833,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2L-1	chr2:113400756-113400870	XLOC_002275
2	lnc-CKAP2L-1	chr2:113400756-113400870	XLOC_002275
3	lnc-CKAP2L-1	chr2:113400756-113400870	ENSG00000237753
4	lnc-CKAP2L-1	chr2:113400756-113400831	NONHSAT073709

No data

Variant related genes	Relation type
SLC20A1	TF binding region
ENSG00000231747	Chromatin interaction
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2138604	1.00[AMR][1000 genomes]
rs35691553	1.00[AMR][1000 genomes]
rs3783585	1.00[AMR][1000 genomes]
rs56770888	1.00[AMR][1000 genomes]
rs7559917	1.00[AMR][1000 genomes]
rs908550	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113385000-113402600	Weak transcription	Esophagus	oesophagus
2	chr2:113385800-113401800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:113389400-113402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:113389600-113402200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:113392800-113402000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:113394400-113402000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:113394600-113402000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:113394800-113402000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:113395000-113401400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:113395000-113402000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:113395200-113401800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:113395600-113400800	Weak transcription	Liver	Liver
13	chr2:113397000-113401800	Enhancers	HMEC	breast
14	chr2:113397200-113402000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:113397400-113401600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:113397600-113402200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:113398000-113401600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:113398000-113402000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:113398200-113401400	Enhancers	HepG2	liver
20	chr2:113398200-113401800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:113398400-113402400	Weak transcription	Aorta	Aorta
22	chr2:113398600-113401600	Weak transcription	Right Ventricle	heart
23	chr2:113398600-113401800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:113398600-113402200	Weak transcription	Left Ventricle	heart
25	chr2:113398600-113402200	Enhancers	NHDF-Ad	bronchial
26	chr2:113398800-113402000	Enhancers	HUVEC	blood vessel
27	chr2:113398800-113402200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:113398800-113402400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:113398800-113402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:113398800-113402400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:113399000-113401200	Enhancers	K562	blood
32	chr2:113399000-113401800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:113399000-113401800	Enhancers	NH-A	brain
34	chr2:113399000-113402000	Weak transcription	Adipose Nuclei	Adipose
35	chr2:113399000-113402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:113399000-113402200	Enhancers	HSMMtube	muscle
37	chr2:113399200-113401200	Weak transcription	Placenta	Placenta
38	chr2:113399200-113401400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:113399200-113401400	Weak transcription	Spleen	Spleen
40	chr2:113399200-113401400	Enhancers	Osteobl	bone
41	chr2:113399200-113401800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:113399200-113402000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:113399200-113402000	Weak transcription	Fetal Thymus	thymus
44	chr2:113399200-113402000	Enhancers	HSMM	muscle
45	chr2:113399200-113402200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:113399200-113402200	Weak transcription	Right Atrium	heart
47	chr2:113399200-113402200	Enhancers	NHLF	lung
48	chr2:113399200-113402400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:113399200-113402600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:113399200-113402600	Weak transcription	Lung	lung

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