Variant report

Variant	rs16841843
Chromosome Location	chr1:197613916-197613917
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	chr1:197613381..197615580-chr1:197616479..197618755,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11799366	0.83[AFR][1000 genomes]
rs11807556	0.83[AFR][1000 genomes]
rs11809987	0.83[AFR][1000 genomes]
rs11810052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841850	0.83[AFR][1000 genomes]
rs16841893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41418447	0.82[AFR][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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv548872	chr1:197529218-197644581	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3397065	chr1:197545083-197637033	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:197593600-197628400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:197596600-197644800	Weak transcription	Ovary	ovary
5	chr1:197598800-197628600	Weak transcription	NHDF-Ad	bronchial
6	chr1:197599200-197628600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:197602800-197615200	Weak transcription	Pancreas	Pancrea
8	chr1:197602800-197625000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:197602800-197641400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:197603000-197614000	Weak transcription	Lung	lung
11	chr1:197603000-197620400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:197603000-197621200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:197603000-197625200	Weak transcription	Thymus	Thymus
14	chr1:197603000-197627800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:197603000-197628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:197603000-197632400	Weak transcription	Fetal Lung	lung
17	chr1:197603000-197632600	Weak transcription	Small Intestine	intestine
18	chr1:197603200-197625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:197603200-197625200	Weak transcription	Left Ventricle	heart
20	chr1:197603200-197626600	Weak transcription	Fetal Stomach	stomach
21	chr1:197603200-197628400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:197603200-197645000	Weak transcription	Esophagus	oesophagus
23	chr1:197603400-197618000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:197603400-197624800	Weak transcription	Right Ventricle	heart
25	chr1:197603400-197643400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:197604000-197626400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:197604000-197628200	Weak transcription	Liver	Liver
28	chr1:197604200-197635200	Weak transcription	Aorta	Aorta
29	chr1:197604600-197626400	Weak transcription	Primary T cells from cord blood	blood
30	chr1:197607800-197622800	Weak transcription	NH-A	brain
31	chr1:197608400-197615200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:197608400-197628400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:197608600-197631400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:197609000-197614000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:197609000-197628000	Weak transcription	Fetal Kidney	kidney
36	chr1:197609600-197621600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:197609800-197614400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:197610200-197626200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:197610200-197640000	Weak transcription	Fetal Intestine Small	intestine
40	chr1:197610600-197622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:197610800-197621000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:197611800-197644800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:197612000-197619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:197612000-197622600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:197612000-197628200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:197612000-197628400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:197612200-197619400	Weak transcription	Dnd41	blood
48	chr1:197612200-197642200	Weak transcription	Primary B cells from cord blood	blood
49	chr1:197612400-197628600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:197612400-197628600	Weak transcription	Fetal Thymus	thymus

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