Variant report

Variant	rs55849328
Chromosome Location	chr2:209132429-209132430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr2:209132182-209132695	K562	blood:	n/a	n/a
2	POLR2A	chr2:209132337-209132477	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:209121994..209124234-chr2:209131369..209133621,2	MCF-7	breast:
2	chr2:209104332..209106656-chr2:209130862..209133286,2	MCF-7	breast:
3	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:
4	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
5	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
6	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
7	chr2:209129669..209131681-chr2:209132251..209135245,2	K562	blood:
8	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:

No data

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000115020	Chromatin interaction
ENSG00000228380	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000231908	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11893137	1.00[EUR][1000 genomes]
rs11900211	1.00[EUR][1000 genomes]
rs13015438	1.00[EUR][1000 genomes]
rs13020468	1.00[EUR][1000 genomes]
rs13034777	1.00[EUR][1000 genomes]
rs16840789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16840791	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16840793	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16840911	0.90[EUR][1000 genomes]
rs16840913	1.00[EUR][1000 genomes]
rs16841273	1.00[AMR][1000 genomes]
rs34338022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366347	1.00[EUR][1000 genomes]
rs34757991	1.00[AMR][1000 genomes]
rs71418672	1.00[EUR][1000 genomes]
rs71418679	1.00[EUR][1000 genomes]
rs71418693	1.00[AMR][1000 genomes]
rs73983726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73983759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578542	1.00[EUR][1000 genomes]
rs7579320	1.00[EUR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209129800-209132800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr2:209129800-209132800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:209129800-209133000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:209129800-209133000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:209130000-209132600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:209130000-209132600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:209130000-209132600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:209130000-209132800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:209130000-209132800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:209130000-209132800	Active TSS	Ovary	ovary
11	chr2:209130200-209132600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:209130200-209132600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:209130200-209132600	Active TSS	Colon Smooth Muscle	Colon
14	chr2:209130200-209132800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:209130200-209132800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:209130200-209132800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:209130200-209133400	Active TSS	K562	blood
18	chr2:209130400-209132600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:209130400-209132600	Active TSS	GM12878-XiMat	blood
20	chr2:209130400-209132800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:209130400-209132800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:209130400-209132800	Active TSS	NHLF	lung
23	chr2:209130400-209133200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:209130600-209132600	Active TSS	Hela-S3	cervix
25	chr2:209130600-209132600	Active TSS	HMEC	breast
26	chr2:209130600-209132600	Active TSS	NHEK	skin
27	chr2:209130600-209132800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:209130600-209132800	Active TSS	HSMM	muscle
29	chr2:209130600-209133000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:209130800-209132600	Active TSS	NHDF-Ad	bronchial
31	chr2:209130800-209133000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:209131400-209132600	Flanking Active TSS	Osteobl	bone
33	chr2:209131400-209132800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:209131400-209133000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:209131600-209132600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr2:209131600-209132800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr2:209131600-209132800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr2:209131600-209132800	Flanking Active TSS	Liver	Liver
39	chr2:209131600-209132800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr2:209131600-209132800	Flanking Active TSS	HUVEC	blood vessel
41	chr2:209131600-209133200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:209131600-209133200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:209131600-209134400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:209131800-209132800	Enhancers	Colonic Mucosa	Colon
45	chr2:209131800-209132800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:209131800-209134400	Enhancers	Small Intestine	intestine
47	chr2:209131800-209143200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:209132000-209132600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:209132000-209132600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:209132000-209132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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