Variant report

Variant	rs2294718
Chromosome Location	chr1:171750854-171750855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
2	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
3	chr1:171750066..171750854-chr11:94822619..94823499,2	HCT-116	colon:
4	chr1:171750400..171751284-chr9:115512246..115512858,2	Hela-S3	cervix:
5	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
6	chr1:171750621..171751192-chr6:44094734..44095532,2	Hela-S3	cervix:
7	chr1:171750745..171751328-chr6:7910543..7911467,2	NB4	blood:
8	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:
9	chr1:171729687..171733295-chr1:171747531..171751881,5	K562	blood:
10	chr1:171750053..171752040-chr1:171760205..171763597,3	MCF-7	breast:
11	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
12	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
13	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
14	chr1:171750345..171750984-chr19:56146237..56147133,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction
ENSG00000149218	Chromatin interaction
ENSG00000226609	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000253060	Chromatin interaction
ENSG00000239264	Chromatin interaction
ENSG00000236741	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000232261	Chromatin interaction
ENSG00000180992	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1045456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10489252	1.00[CEU][hapmap]
rs12091786	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12565176	1.00[CEU][hapmap]
rs17596025	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17596081	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17649609	1.00[CEU][hapmap]
rs17650310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1801898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2181216	1.00[CEU][hapmap]
rs2223602	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2232807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2232819	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2232824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2232825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs236894	1.00[CEU][hapmap]
rs236899	1.00[CEU][hapmap]
rs236907	1.00[CEU][hapmap]
rs6674364	1.00[CEU][hapmap]
rs6675708	1.00[CEU][hapmap]
rs6681322	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6687624	0.90[JPT][hapmap]
rs7522582	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv1802105	chr1:171749558-171751236	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1802411	chr1:171749665-171751051	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv522889	chr1:171749665-171755071	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr1:171749600-171751200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:171749600-171751400	Active TSS	Brain Anterior Caudate	brain
3	chr1:171749600-171751400	Active TSS	Fetal Heart	heart
4	chr1:171749600-171751400	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:171749600-171751600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171749600-171751600	Active TSS	Brain Substantia Nigra	brain
7	chr1:171749600-171751800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:171749600-171751800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:171749600-171751800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:171749600-171751800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:171749600-171751800	Active TSS	Fetal Kidney	kidney
12	chr1:171749600-171752000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:171749600-171752000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:171749600-171752200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:171749600-171752400	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:171749800-171751200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:171749800-171751200	Active TSS	Aorta	Aorta
18	chr1:171749800-171751200	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:171749800-171751400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:171749800-171751400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:171749800-171751600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:171749800-171751600	Active TSS	Fetal Intestine Large	intestine
23	chr1:171749800-171751600	Active TSS	Left Ventricle	heart
24	chr1:171749800-171751600	Active TSS	Ovary	ovary
25	chr1:171749800-171751600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr1:171749800-171751800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:171749800-171751800	Active TSS	Brain Angular Gyrus	brain
28	chr1:171749800-171751800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:171749800-171751800	Active TSS	Colonic Mucosa	Colon
30	chr1:171749800-171751800	Active TSS	Fetal Intestine Small	intestine
31	chr1:171749800-171751800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:171749800-171751800	Active TSS	Psoas Muscle	Psoas
33	chr1:171749800-171751800	Active TSS	Right Ventricle	heart
34	chr1:171749800-171751800	Active TSS	HSMM	muscle
35	chr1:171749800-171751800	Active TSS	HSMMtube	muscle
36	chr1:171749800-171751800	Active TSS	NH-A	brain
37	chr1:171749800-171752200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:171749800-171752200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:171749800-171752200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:171749800-171752200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr1:171749800-171752200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:171749800-171752400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:171749800-171752400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:171749800-171752600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:171750000-171751200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:171750000-171751200	Active TSS	Brain Hippocampus Middle	brain
47	chr1:171750000-171751400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:171750000-171751400	Active TSS	Fetal Muscle Trunk	muscle
49	chr1:171750000-171751400	Active TSS	Placenta	Placenta
50	chr1:171750000-171751400	Active TSS	Fetal Stomach	stomach

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