Variant report

Variant	rs7326241
Chromosome Location	chr13:111126919-111126920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11617206	0.92[YRI][hapmap]
rs4773191	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv430604	chr13:111095999-111156999	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1039297	chr13:111101507-111138863	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541923	chr13:111101507-111138863	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3338795	chr13:111125251-111129449	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	esv3383351	chr13:111126663-111127421	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	esv5327	chr13:111126825-111127237	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
6	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
7	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
11	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
12	chr13:111108800-111127000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
15	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
16	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
20	chr13:111109600-111158800	Strong transcription	Ovary	ovary
21	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:111112000-111127000	Weak transcription	Esophagus	oesophagus
24	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
25	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
26	chr13:111116200-111130400	Weak transcription	Psoas Muscle	Psoas
27	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:111117400-111127000	Strong transcription	Fetal Lung	lung
29	chr13:111117800-111130200	Strong transcription	Left Ventricle	heart
30	chr13:111118000-111127800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:111118200-111129200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:111118800-111127000	Weak transcription	Fetal Brain Male	brain
33	chr13:111119000-111127200	Weak transcription	Brain Substantia Nigra	brain
34	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
35	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
38	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:111119600-111129000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
42	chr13:111119800-111129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:111120800-111127000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:111122000-111127200	Strong transcription	Gastric	stomach
45	chr13:111122400-111129200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr13:111123000-111127000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:111123200-111127200	Strong transcription	Placenta	Placenta
48	chr13:111123200-111128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:111123200-111129200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:111123800-111127800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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