Variant report

Variant	rs2299842
Chromosome Location	chr18:9811021-9811022
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:9811000-9811150	HEK293	kidney:	n/a	n/a
2	REST	chr18:9810971-9811207	H1-hESC	embryonic stem cell:	n/a	chr18:9811112-9811121 chr18:9811144-9811157
3	MAX	chr18:9810958-9811286	K562	blood:	n/a	n/a
4	SMC3	chr18:9811016-9811279	K562	blood:	n/a	n/a
5	CTCF	chr18:9811016-9811249	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr18:9810997-9811250	SK-N-SH_RA	brain:	n/a	n/a
7	MYC	chr18:9811010-9811201	NB4	blood:	n/a	n/a
8	RAD21	chr18:9810967-9811384	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr18:9810949-9811343	K562	blood:	n/a	n/a
10	MYC	chr18:9810926-9811363	K562	blood:	n/a	n/a
11	ARID3A	chr18:9811004-9811298	K562	blood:	n/a	n/a
12	RCOR1	chr18:9811003-9811403	K562	blood:	n/a	n/a
13	JUND	chr18:9810997-9811318	K562	blood:	n/a	n/a
14	RAD21	chr18:9810866-9811426	HCT-116	colon:	n/a	n/a
15	MAZ	chr18:9811011-9811373	K562	blood:	n/a	n/a
16	MYC	chr18:9810980-9811371	K562	blood:	n/a	n/a
17	CTCF	chr18:9811020-9811170	BE2_C	brain:	n/a	n/a
18	REST	chr18:9811014-9811206	K562	blood:	n/a	chr18:9811112-9811121 chr18:9811144-9811157
19	REST	chr18:9810935-9811300	K562	blood:	n/a	chr18:9811112-9811121 chr18:9811144-9811157
20	CTCF	chr18:9811000-9811150	HCT-116	colon:	n/a	n/a
21	RAD21	chr18:9810996-9811307	K562	blood:	n/a	n/a
22	RAD21	chr18:9810968-9811361	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr18:9811001-9811372	K562	blood:	n/a	n/a
24	CTCF	chr18:9810960-9811282	K562	blood:	n/a	n/a
25	RAD21	chr18:9810872-9811408	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr18:9811001-9811267	K562	blood:	n/a	n/a
27	CTCF	chr18:9811002-9811337	K562	blood:	n/a	n/a
28	MAX	chr18:9810995-9811252	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:9809368..9812199-chr18:9887244..9891245,4	K562	blood:
2	chr18:9808367..9812199-chr18:9887244..9891245,4	K562	blood:
3	chr18:9809780..9811807-chr18:9899087..9901333,2	K562	blood:
4	chr18:9807137..9811222-chr18:9917740..9921159,3	K562	blood:

No data

Variant related genes	Relation type
RAB31	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17804174	0.80[TSI][hapmap]
rs2267564	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs2299845	0.84[MKK][hapmap]
rs4366777	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9805400-9811400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr18:9805600-9814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:9806400-9811400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:9807000-9813000	Enhancers	Fetal Muscle Leg	muscle
7	chr18:9807200-9811400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:9807400-9814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr18:9808400-9812400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:9808600-9811800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:9808800-9811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:9808800-9812200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr18:9809000-9812400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:9809200-9811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:9809200-9811200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:9809200-9811400	Enhancers	Brain Substantia Nigra	brain
20	chr18:9809200-9813000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:9809200-9824800	Weak transcription	Lung	lung
26	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
27	chr18:9809400-9811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:9809400-9811200	Enhancers	Stomach Smooth Muscle	stomach
29	chr18:9809400-9815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
32	chr18:9809400-9816000	Weak transcription	NHEK	skin
33	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
34	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:9809600-9824400	Weak transcription	HMEC	breast
36	chr18:9809800-9811200	Enhancers	K562	blood
37	chr18:9809800-9812200	Weak transcription	Hela-S3	cervix
38	chr18:9810000-9811200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:9810000-9811800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr18:9810000-9812400	Enhancers	Fetal Heart	heart
41	chr18:9810000-9814000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
43	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
44	chr18:9810200-9812400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:9810200-9812400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr18:9810200-9813000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr18:9810200-9814000	Weak transcription	HepG2	liver
48	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:9810200-9824000	Weak transcription	Ovary	ovary
50	chr18:9810400-9814000	Weak transcription	A549	lung

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