Variant report

Variant	rs234638
Chromosome Location	chr1:184867505-184867506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184862707..184866254-chr1:184866264..184869963,3	K562	blood:
2	chr1:184866299..184868132-chr1:184875689..184878223,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16823452	1.00[EUR][1000 genomes]
rs16823480	1.00[EUR][1000 genomes]
rs16823513	1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234639	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234675	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	1.00[EUR][1000 genomes]
rs6664204	1.00[EUR][1000 genomes]
rs6679466	1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	1.00[EUR][1000 genomes]
rs74132036	1.00[EUR][1000 genomes]
rs74132037	1.00[EUR][1000 genomes]
rs74132038	1.00[EUR][1000 genomes]
rs74132050	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	1.00[EUR][1000 genomes]
rs7528332	1.00[EUR][1000 genomes]
rs7541371	1.00[EUR][1000 genomes]

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:184852000-184874200	Weak transcription	Spleen	Spleen
6	chr1:184852800-184875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:184854000-184868600	Weak transcription	Fetal Stomach	stomach
8	chr1:184855600-184868800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:184855600-184869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:184855800-184868600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:184857200-184875000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:184858600-184869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:184859200-184872400	Weak transcription	Right Atrium	heart
14	chr1:184859400-184870800	Weak transcription	Small Intestine	intestine
15	chr1:184859800-184869400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:184860000-184869400	Weak transcription	Pancreas	Pancrea
17	chr1:184860000-184871800	Weak transcription	NHLF	lung
18	chr1:184860000-184874200	Weak transcription	Gastric	stomach
19	chr1:184860000-184874200	Weak transcription	NHDF-Ad	bronchial
20	chr1:184860200-184871000	Weak transcription	K562	blood
21	chr1:184860200-184871800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:184860600-184874400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:184860800-184869400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:184860800-184875000	Weak transcription	Psoas Muscle	Psoas
25	chr1:184861400-184868400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:184862200-184874600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:184862400-184874000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:184862400-184874200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:184862400-184874600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:184863000-184868000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:184863000-184869000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:184863000-184869600	Weak transcription	NHEK	skin
33	chr1:184863000-184905000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:184863400-184870400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:184863600-184869400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:184865200-184869200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:184865200-184874400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:184865400-184868600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:184865400-184873800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:184866000-184867600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:184866000-184868400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:184866200-184867800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:184866200-184868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:184866200-184869400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:184866400-184867600	Strong transcription	Left Ventricle	heart
46	chr1:184866400-184867800	Strong transcription	GM12878-XiMat	blood
47	chr1:184866400-184868200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:184866400-184868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:184866400-184868600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:184866600-184867800	Strong transcription	Right Ventricle	heart

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