Variant report

Variant	rs334102
Chromosome Location	chr2:179060313-179060314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178979115..178980922-chr2:179059390..179062250,2	K562	blood:
2	chr2:178975067..178978289-chr2:179058254..179060575,4	MCF-7	breast:
3	chr2:179059539..179061742-chr2:179114111..179116745,2	K562	blood:
4	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 66 )
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	0.82[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	0.83[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	0.94[AFR][1000 genomes];0.89[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	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs334094	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334103	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	0.87[ASW][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs334115	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334116	0.82[ASN][1000 genomes]
rs334117	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334122	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334125	0.82[ASN][1000 genomes]
rs334126	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334128	0.91[ASN][1000 genomes]
rs334132	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334133	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35480930	0.83[ASN][1000 genomes]
rs407528	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs437385	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs437523	0.94[AFR][1000 genomes];0.88[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	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs930191	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv3409926	chr2:179058531-179061079	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1838690	chr2:179058577-179060313	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1841516	chr2:179058577-179060313	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1807820	chr2:179058818-179060313	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179058000-179060800	Active TSS	NHLF	lung
2	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
3	chr2:179058200-179060400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:179058200-179060400	Active TSS	Colon Smooth Muscle	Colon
5	chr2:179058200-179060400	Active TSS	Left Ventricle	heart
6	chr2:179058200-179060400	Active TSS	Rectal Smooth Muscle	rectum
7	chr2:179058200-179060600	Active TSS	Right Ventricle	heart
8	chr2:179058200-179060600	Active TSS	NHDF-Ad	bronchial
9	chr2:179058200-179060800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:179058200-179060800	Active TSS	Right Atrium	heart
11	chr2:179058200-179061000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:179058400-179060400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:179058400-179060400	Active TSS	Aorta	Aorta
14	chr2:179058400-179060400	Active TSS	HSMM	muscle
15	chr2:179058400-179060600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:179058400-179060800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179058400-179060800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:179058400-179060800	Active TSS	Fetal Kidney	kidney
19	chr2:179058400-179061000	Active TSS	Ovary	ovary
20	chr2:179058400-179061400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:179058400-179061400	Active TSS	Psoas Muscle	Psoas
22	chr2:179058600-179060400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr2:179058600-179060400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:179058600-179060400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:179058600-179060400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:179058600-179060400	Active TSS	Brain Anterior Caudate	brain
27	chr2:179058600-179060400	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr2:179058600-179060400	Active TSS	Pancreas	Pancrea
29	chr2:179058600-179060600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:179058600-179060600	Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:179058600-179060600	Active TSS	A549	lung
32	chr2:179058600-179060600	Active TSS	HSMMtube	muscle
33	chr2:179058600-179060800	Active TSS	Brain Hippocampus Middle	brain
34	chr2:179058600-179061000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:179058600-179061000	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:179058600-179061000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:179058600-179061000	Active TSS	Brain Substantia Nigra	brain
38	chr2:179058600-179061000	Active TSS	Hela-S3	cervix
39	chr2:179058800-179060400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:179058800-179060600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:179058800-179060600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr2:179058800-179060600	Active TSS	Stomach Smooth Muscle	stomach
43	chr2:179058800-179060800	Active TSS	HMEC	breast
44	chr2:179059000-179060400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:179059000-179060600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:179059000-179060800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:179059000-179061200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:179059200-179060600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:179059200-179060600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:179059400-179060400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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