Variant report

Variant	rs334103
Chromosome Location	chr2:179061110-179061111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179060480..179062055-chr2:179072193..179074054,2	K562	blood:
2	chr2:178979115..178980922-chr2:179059390..179062250,2	K562	blood:
3	chr2:178937601..178939157-chr2:179060683..179062611,2	K562	blood:
4	chr2:179060830..179065562-chr2:179066300..179070960,4	K562	blood:
5	chr2:179059539..179061742-chr2:179114111..179116745,2	K562	blood:
6	chr2:178940431..178942693-chr2:179060357..179062621,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10187205	0.80[ASN][1000 genomes]
rs10197166	0.93[JPT][hapmap]
rs10930823	0.83[ASN][1000 genomes]
rs10930827	0.81[JPT][hapmap]
rs12693155	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13013858	0.84[ASN][1000 genomes]
rs13389850	0.85[ASN][1000 genomes]
rs13403689	0.86[JPT][hapmap]
rs17638592	0.91[ASN][1000 genomes]
rs186736	0.82[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.94[ASN][1000 genomes]
rs232042	0.82[ASN][1000 genomes]
rs2366157	0.93[JPT][hapmap]
rs2366365	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3099472	0.81[ASN][1000 genomes]
rs333996	0.93[JPT][hapmap]
rs334005	0.93[JPT][hapmap]
rs334007	0.93[JPT][hapmap]
rs334017	0.93[JPT][hapmap]
rs334024	0.81[JPT][hapmap]
rs334028	0.80[JPT][hapmap]
rs334035	0.93[JPT][hapmap]
rs334037	0.80[JPT][hapmap]
rs334040	0.93[JPT][hapmap]
rs334041	0.86[JPT][hapmap]
rs334042	0.93[JPT][hapmap]
rs334043	0.86[JPT][hapmap]
rs334044	0.86[JPT][hapmap]
rs334045	0.93[JPT][hapmap]
rs334079	0.93[ASN][1000 genomes]
rs334080	0.93[ASN][1000 genomes]
rs334081	0.82[ASN][1000 genomes]
rs334092	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs334094	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334110	0.86[ASW][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs334115	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334116	0.82[ASN][1000 genomes]
rs334117	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334122	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334125	0.82[ASN][1000 genomes]
rs334126	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334128	0.91[ASN][1000 genomes]
rs334132	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334133	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35480930	0.83[ASN][1000 genomes]
rs407528	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs437385	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs437523	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4894001	0.81[ASN][1000 genomes]
rs6719178	0.93[JPT][hapmap]
rs7419749	0.81[JPT][hapmap]
rs7581504	1.00[JPT][hapmap]
rs7589907	0.84[ASN][1000 genomes]
rs7591476	0.81[ASN][1000 genomes]
rs7595650	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs930191	0.82[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3340257	chr2:179057106-179061404	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
2	chr2:179058400-179061400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179058400-179061400	Active TSS	Psoas Muscle	Psoas
4	chr2:179059000-179061200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:179060400-179061200	Active TSS	K562	blood
6	chr2:179060600-179065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:179060600-179069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:179060800-179070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:179061000-179061400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr2:179061000-179061400	Enhancers	HMEC	breast
12	chr2:179061000-179061600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:179061000-179061600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr2:179061000-179061600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:179061000-179061800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:179061000-179061800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:179061000-179061800	Enhancers	Hela-S3	cervix
18	chr2:179061000-179062000	Weak transcription	Fetal Brain Male	brain
19	chr2:179061000-179062000	Weak transcription	Fetal Brain Female	brain
20	chr2:179061000-179062400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:179061000-179062600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:179061000-179062800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:179061000-179062800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:179061000-179069200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:179061000-179069800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:179061000-179070000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:179061000-179070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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