Variant report

Variant	rs1156249
Chromosome Location	chr2:205318010-205318011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
2	chr2:205317294..205319471-chr2:205340816..205343787,2	K562	blood:
3	chr2:205317299..205320276-chr2:205333008..205336367,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10084416	1.00[ASN][1000 genomes]
rs10490267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10932063	0.87[ASN][1000 genomes]
rs11690070	0.87[ASN][1000 genomes]
rs12472876	0.93[ASN][1000 genomes]
rs12616166	0.94[ASN][1000 genomes]
rs12990859	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13003798	0.83[EUR][1000 genomes]
rs13005161	0.83[EUR][1000 genomes]
rs13007075	0.83[EUR][1000 genomes]
rs13010221	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13021097	0.83[EUR][1000 genomes]
rs13024043	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374708	0.98[ASN][1000 genomes]
rs1374709	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1447488	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1447490	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1447493	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1447495	0.92[ASN][1000 genomes]
rs1550909	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17637637	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17637778	0.83[EUR][1000 genomes]
rs34157021	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34368384	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34816339	0.81[EUR][1000 genomes]
rs35071164	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35207649	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4675457	0.93[ASN][1000 genomes]
rs71427747	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71427750	0.84[EUR][1000 genomes]
rs71427751	0.83[EUR][1000 genomes]
rs71427753	0.81[EUR][1000 genomes]
rs7602656	0.92[ASN][1000 genomes]
rs921163	0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs959032	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs959033	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1156249	ALS2CR8	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205314000-205320000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:205314600-205319800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:205315600-205318400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:205315600-205318400	Weak transcription	Brain Substantia Nigra	brain
5	chr2:205315600-205318800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:205316000-205318400	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:205316400-205318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:205316400-205318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:205316400-205318600	Weak transcription	Lung	lung
10	chr2:205316600-205318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:205316600-205318400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:205316600-205320200	Enhancers	Fetal Brain Male	brain
13	chr2:205316600-205320400	Enhancers	Fetal Intestine Small	intestine
14	chr2:205316800-205318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:205316800-205318400	Enhancers	Adipose Nuclei	Adipose
16	chr2:205316800-205318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:205316800-205319000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:205316800-205319200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:205316800-205319600	Enhancers	Fetal Kidney	kidney
20	chr2:205316800-205320200	Enhancers	Fetal Muscle Leg	muscle
21	chr2:205317200-205318200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:205317200-205318400	Weak transcription	HSMM	muscle
23	chr2:205317200-205318600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:205317200-205318600	Weak transcription	Right Ventricle	heart
25	chr2:205317200-205319200	Enhancers	NHLF	lung
26	chr2:205317200-205319400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:205317200-205319800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:205317200-205320000	Enhancers	Fetal Brain Female	brain
29	chr2:205317200-205320000	Enhancers	K562	blood
30	chr2:205317400-205318400	Enhancers	Fetal Lung	lung
31	chr2:205317400-205318400	Weak transcription	Right Atrium	heart
32	chr2:205317400-205320200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:205317600-205318400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:205317600-205318400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:205317600-205318400	Enhancers	Colon Smooth Muscle	Colon
36	chr2:205317600-205318400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:205317600-205318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:205317600-205318600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:205317600-205318600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:205317600-205318600	Weak transcription	Ovary	ovary
41	chr2:205317600-205318600	Weak transcription	Psoas Muscle	Psoas
42	chr2:205317600-205318600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:205317600-205319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:205317800-205318200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:205317800-205318200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:205317800-205318200	Weak transcription	Fetal Stomach	stomach
47	chr2:205317800-205318200	Weak transcription	Left Ventricle	heart
48	chr2:205317800-205318400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:205317800-205318400	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:205317800-205318600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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