Variant report

Variant	rs2755094
Chromosome Location	chr1:226165299-226165300
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226162509..226165639-chr1:226249685..226252851,4	K562	blood:
2	chr1:226162239..226166134-chr1:226308775..226311257,3	K562	blood:
3	chr1:225661061..225665257-chr1:226163112..226166318,3	K562	blood:
4	chr1:226164266..226167338-chr1:226248609..226251593,3	MCF-7	breast:
5	chr1:226163855..226167681-chr1:226167885..226170495,3	K562	blood:
6	chr1:226163729..226166134-chr1:226308775..226311052,3	K562	blood:
7	chr1:226162204..226165868-chr1:226249705..226252977,5	K562	blood:
8	chr1:226165055..226167554-chr1:226173060..226175122,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10915935	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11586667	1.00[MEX][hapmap]
rs11590226	1.00[MEX][hapmap]
rs11808474	1.00[MEX][hapmap]
rs16845468	0.90[MEX][hapmap]
rs1885254	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap]
rs1998273	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs2755097	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs2816323	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs2816324	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs2816326	1.00[CEU][hapmap];0.82[TSI][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2755094	CNIH4	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226156400-226165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226156800-226167200	Weak transcription	HepG2	liver
4	chr1:226156800-226167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226157000-226167200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:226157000-226167400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:226158800-226165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:226161000-226165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:226161200-226165400	Weak transcription	K562	blood
10	chr1:226161200-226167200	Weak transcription	Fetal Kidney	kidney
11	chr1:226161200-226167200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:226162400-226173000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:226162800-226165400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:226163000-226165400	Weak transcription	HSMM	muscle
15	chr1:226163200-226167200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:226163400-226165800	Weak transcription	HSMMtube	muscle
17	chr1:226163400-226166200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:226163600-226165400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:226163600-226175800	Weak transcription	Aorta	Aorta
20	chr1:226163800-226165400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:226163800-226165400	Weak transcription	Liver	Liver
22	chr1:226163800-226165400	Weak transcription	Left Ventricle	heart
23	chr1:226163800-226165400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:226163800-226165400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:226163800-226165600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:226163800-226165600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:226163800-226166000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:226163800-226166000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:226163800-226166000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:226163800-226166200	Weak transcription	Colonic Mucosa	Colon
31	chr1:226163800-226166400	Weak transcription	Fetal Lung	lung
32	chr1:226163800-226167200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:226163800-226167200	Weak transcription	A549	lung
34	chr1:226163800-226167200	Weak transcription	NHLF	lung
35	chr1:226163800-226167400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:226163800-226167400	Weak transcription	Dnd41	blood
37	chr1:226163800-226167400	Weak transcription	HUVEC	blood vessel
38	chr1:226163800-226167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:226163800-226167600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:226163800-226167600	Weak transcription	NH-A	brain
41	chr1:226163800-226167800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:226163800-226167800	Weak transcription	NHDF-Ad	bronchial
43	chr1:226163800-226168200	Weak transcription	Psoas Muscle	Psoas
44	chr1:226163800-226169000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:226163800-226169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:226163800-226169000	Weak transcription	HMEC	breast
47	chr1:226163800-226174400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:226163800-226175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:226163800-226175600	Weak transcription	Gastric	stomach
50	chr1:226163800-226175800	Weak transcription	Esophagus	oesophagus

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