Variant report

Variant	rs6692929
Chromosome Location	chr1:155756047-155756048
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	chr1:155755387..155757428-chr1:155757554..155759146,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11264414	1.00[AMR][1000 genomes]
rs11264415	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11264418	0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap]
rs12061759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066633	1.00[MEX][hapmap]
rs12075435	1.00[AMR][1000 genomes]
rs12095373	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12097744	1.00[MEX][hapmap]
rs16837068	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837089	0.86[LWK][hapmap];1.00[MKK][hapmap]
rs41409345	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56970932	1.00[AMR][1000 genomes]
rs58304308	1.00[AMR][1000 genomes]
rs6674865	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6675202	1.00[AMR][1000 genomes]
rs6687169	1.00[MEX][hapmap]
rs6702507	1.00[AMR][1000 genomes]
rs74116406	0.85[AFR][1000 genomes]
rs74116434	1.00[AMR][1000 genomes]
rs7520381	1.00[MEX][hapmap]
rs7523409	1.00[AMR][1000 genomes]
rs7530638	1.00[AMR][1000 genomes]
rs7546314	1.00[MEX][hapmap]
rs7552711	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
6	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
10	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155720400-155756400	Strong transcription	Liver	Liver
12	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:155720600-155757200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:155730400-155764200	Weak transcription	Psoas Muscle	Psoas
16	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:155734800-155756600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:155737200-155772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:155743000-155763400	Weak transcription	HMEC	breast
20	chr1:155743200-155773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:155743600-155762200	Weak transcription	NHDF-Ad	bronchial
22	chr1:155744200-155757600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:155745200-155761000	Strong transcription	Fetal Intestine Small	intestine
24	chr1:155746400-155774000	Weak transcription	Pancreas	Pancrea
25	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
26	chr1:155746600-155763400	Weak transcription	Spleen	Spleen
27	chr1:155746800-155756200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:155746800-155758600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:155747000-155763000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:155747000-155764200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:155747200-155763400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:155747400-155763200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:155747600-155764000	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:155747600-155764200	Weak transcription	A549	lung
35	chr1:155747600-155764400	Weak transcription	Ovary	ovary
36	chr1:155747600-155776200	Weak transcription	Right Ventricle	heart
37	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
38	chr1:155747800-155762200	Weak transcription	K562	blood
39	chr1:155747800-155762600	Weak transcription	NHLF	lung
40	chr1:155747800-155764400	Weak transcription	NHEK	skin
41	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
42	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
43	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:155748800-155771600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:155749600-155756400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:155749800-155766400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:155751000-155756800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:155751800-155756200	Strong transcription	Primary T cells from cord blood	blood
49	chr1:155751800-155756600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:155751800-155756600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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