Variant report

Variant	rs73915431
Chromosome Location	chr2:11708751-11708752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11702112..11704943-chr2:11706834..11711515,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10427206	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520085	1.00[EUR][1000 genomes]
rs16857583	1.00[EUR][1000 genomes]
rs5020877	0.87[ASN][1000 genomes]
rs56714132	1.00[EUR][1000 genomes]
rs56805168	1.00[EUR][1000 genomes]
rs57108153	1.00[EUR][1000 genomes]
rs57932839	1.00[EUR][1000 genomes]
rs58738000	0.91[ASN][1000 genomes]
rs58950938	1.00[EUR][1000 genomes]
rs59489734	1.00[EUR][1000 genomes]
rs59636084	1.00[EUR][1000 genomes]
rs59936690	1.00[EUR][1000 genomes]
rs60215345	1.00[EUR][1000 genomes]
rs61039324	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68152859	0.87[ASN][1000 genomes]
rs72772060	1.00[ASN][1000 genomes]
rs73180151	1.00[EUR][1000 genomes]
rs73187491	1.00[EUR][1000 genomes]
rs73187494	1.00[EUR][1000 genomes]
rs73189350	1.00[EUR][1000 genomes]
rs73189353	1.00[EUR][1000 genomes]
rs73189354	1.00[EUR][1000 genomes]
rs73189377	1.00[EUR][1000 genomes]
rs73915421	1.00[EUR][1000 genomes]
rs73915425	1.00[EUR][1000 genomes]
rs73915426	1.00[EUR][1000 genomes]
rs73915428	1.00[EUR][1000 genomes]
rs73915429	1.00[EUR][1000 genomes]
rs73915430	1.00[EUR][1000 genomes]
rs73915432	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73915433	1.00[EUR][1000 genomes]
rs73915434	1.00[EUR][1000 genomes]
rs73915435	1.00[EUR][1000 genomes]
rs73915443	1.00[EUR][1000 genomes]
rs73917236	1.00[EUR][1000 genomes]
rs73917248	1.00[EUR][1000 genomes]
rs7564191	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11690000-11711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:11694800-11755200	Weak transcription	Gastric	stomach
4	chr2:11697000-11710800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11697000-11722600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:11697000-11723000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:11697000-11723200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:11698600-11713200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:11698600-11713400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:11698800-11713400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11699000-11714400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:11699800-11713200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:11699800-11718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:11699800-11723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
16	chr2:11700200-11712400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:11700200-11713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:11700200-11723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:11700400-11713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:11700400-11718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:11700600-11709600	Genic enhancers	Ovary	ovary
22	chr2:11701800-11709400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11702000-11711000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:11702800-11709400	Weak transcription	Pancreas	Pancrea
25	chr2:11702800-11720200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:11702800-11722400	Strong transcription	HepG2	liver
27	chr2:11703000-11713400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:11703000-11717400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:11704000-11720600	Weak transcription	Fetal Heart	heart
30	chr2:11705200-11713600	Weak transcription	Fetal Lung	lung
31	chr2:11705600-11714600	Weak transcription	Psoas Muscle	Psoas
32	chr2:11706000-11712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:11706600-11708800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:11706800-11708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:11707000-11709000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11707000-11715400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:11707200-11720600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:11707800-11722200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:11708200-11713400	Weak transcription	Fetal Stomach	stomach
40	chr2:11708400-11708800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:11708400-11713000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:11708400-11713600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:11708600-11708800	Strong transcription	Fetal Muscle Leg	muscle

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