Variant report

Variant	rs13375943
Chromosome Location	chr1:186360469-186360470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186358800..186360589-chr1:186369488..186372003,2	MCF-7	breast:
2	chr1:186354829..186357430-chr1:186358384..186361058,3	K562	blood:
3	chr1:186359040..186360832-chr1:186378064..186380778,2	K562	blood:
4	chr1:186357371..186360885-chr1:186362480..186365023,4	K562	blood:

Variant related genes	Relation type
ENSG00000262180	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10158395	1.00[YRI][hapmap]
rs10494585	0.86[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10494588	1.00[YRI][hapmap]
rs16825179	1.00[YRI][hapmap]
rs16825187	1.00[YRI][hapmap]
rs16825277	0.86[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs16825282	0.86[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs16825292	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs16825329	1.00[YRI][hapmap]
rs2141392	0.83[YRI][hapmap]
rs6695920	1.00[YRI][hapmap]
rs7530502	0.85[YRI][hapmap]
rs7547924	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv872589	chr1:186354146-186390303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:186345400-186371600	Weak transcription	Esophagus	oesophagus
3	chr1:186345400-186371600	Weak transcription	Gastric	stomach
4	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
5	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
6	chr1:186345800-186361200	Weak transcription	Aorta	Aorta
7	chr1:186345800-186377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:186346000-186366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:186346200-186360600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:186346200-186361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:186346200-186361200	Weak transcription	Pancreas	Pancrea
12	chr1:186346200-186361400	Weak transcription	Right Ventricle	heart
13	chr1:186346200-186365200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:186346200-186365200	Weak transcription	Psoas Muscle	Psoas
15	chr1:186346200-186380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
17	chr1:186346400-186361000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:186346400-186361200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:186346400-186376000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:186347200-186370800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:186347400-186368000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:186347400-186370400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:186347400-186370400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:186347600-186370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:186348000-186382000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:186348600-186370200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:186348600-186370600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:186348600-186372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:186348600-186372200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:186348600-186373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:186348600-186390200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:186348800-186363600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:186348800-186370200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:186348800-186370200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:186348800-186370200	Strong transcription	Dnd41	blood
38	chr1:186348800-186371000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:186348800-186372000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:186348800-186372200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:186349200-186368600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:186349200-186373200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:186349600-186373200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:186349800-186370000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:186351600-186361600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:186352000-186361600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:186353000-186362600	Strong transcription	Primary B cells from cord blood	blood
48	chr1:186353600-186361600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:186354000-186361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:186354000-186367600	Strong transcription	HSMM	muscle

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