Variant report

Variant	rs6694181
Chromosome Location	chr1:247033008-247033009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247028600..247030122-chr1:247031520..247034371,2	K562	blood:
2	chr1:247030122..247032370-chr1:247032584..247035559,2	K562	blood:
3	chr1:246822078..246824863-chr1:247030582..247033303,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11800375	1.00[EUR][1000 genomes]
rs11805816	1.00[EUR][1000 genomes]
rs11806722	1.00[EUR][1000 genomes]
rs11807103	1.00[EUR][1000 genomes]
rs11807233	1.00[EUR][1000 genomes]
rs12061420	1.00[EUR][1000 genomes]
rs12088097	1.00[EUR][1000 genomes]
rs12091757	1.00[EUR][1000 genomes]
rs12092189	1.00[EUR][1000 genomes]
rs12096743	1.00[EUR][1000 genomes]
rs12097308	1.00[EUR][1000 genomes]
rs13375472	1.00[EUR][1000 genomes]
rs1472276	1.00[EUR][1000 genomes]
rs2067915	1.00[EUR][1000 genomes]
rs3007328	1.00[EUR][1000 genomes]
rs59476689	1.00[EUR][1000 genomes]
rs6659764	1.00[EUR][1000 genomes]
rs6686324	1.00[EUR][1000 genomes]
rs6696599	1.00[EUR][1000 genomes]
rs73140244	1.00[EUR][1000 genomes]
rs73142251	1.00[EUR][1000 genomes]
rs73142256	1.00[EUR][1000 genomes]
rs73144222	1.00[EUR][1000 genomes]
rs73146692	1.00[EUR][1000 genomes]
rs73148612	1.00[EUR][1000 genomes]
rs7516596	1.00[EUR][1000 genomes]
rs7534805	1.00[EUR][1000 genomes]
rs7535104	1.00[EUR][1000 genomes]
rs7537256	1.00[EUR][1000 genomes]
rs7550911	1.00[EUR][1000 genomes]
rs9729188	1.00[EUR][1000 genomes]
rs9887864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv5276	chr1:247028364-247073098	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:247003400-247044600	Strong transcription	Dnd41	blood
11	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
14	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:247004200-247044400	Strong transcription	Liver	Liver
20	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
22	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
24	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
27	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:247020800-247034400	Weak transcription	Aorta	Aorta
29	chr1:247022000-247043000	Strong transcription	A549	lung
30	chr1:247022400-247042800	Weak transcription	Gastric	stomach
31	chr1:247023400-247040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:247023600-247038800	Weak transcription	Right Ventricle	heart
33	chr1:247024000-247034600	Weak transcription	Small Intestine	intestine
34	chr1:247024200-247038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:247024200-247052000	Weak transcription	Pancreas	Pancrea
36	chr1:247025200-247033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:247025200-247033200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:247025200-247033600	Weak transcription	HMEC	breast
39	chr1:247025200-247037000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:247025200-247048000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:247025200-247052000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:247025400-247033400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:247025400-247034200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:247026400-247036400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:247026600-247039200	Strong transcription	Fetal Intestine Large	intestine
46	chr1:247026600-247040400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:247026800-247041600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:247027200-247035400	Weak transcription	HUVEC	blood vessel
49	chr1:247027800-247038800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:247028600-247040400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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