Variant report

Variant	rs1983696
Chromosome Location	chr6:161605944-161605945
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	chr6:161605475..161607777-chr6:161609671..161612543,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1040723	0.83[CHB][hapmap]
rs6925932	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs746731	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs7769321	0.83[CHB][hapmap]
rs910721	0.83[CHB][hapmap]
rs9365258	0.92[CHB][hapmap];1.00[JPT][hapmap]

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	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv33824	chr6:161603136-161608905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1983696	TRIM4	trans	parietal	SCAN
rs1983696	PLG	cis	parietal	SCAN
rs1983696	AGPAT4	cis	cerebellum	SCAN
rs1983696	FAM57B	trans	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161585600-161626000	Weak transcription	Right Atrium	heart
2	chr6:161587400-161607000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:161590000-161611600	Weak transcription	HSMMtube	muscle
4	chr6:161590200-161607600	Weak transcription	HSMM	muscle
5	chr6:161590400-161606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:161591000-161607000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:161591400-161626200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:161591600-161615400	Weak transcription	Fetal Heart	heart
9	chr6:161591800-161607000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:161592000-161607000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:161592000-161609600	Weak transcription	Fetal Brain Male	brain
12	chr6:161592200-161606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:161599400-161606800	Weak transcription	Osteobl	bone
14	chr6:161599800-161647600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:161600000-161607200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:161600200-161606800	Weak transcription	NHDF-Ad	bronchial
17	chr6:161600200-161610000	Weak transcription	Primary T cells from cord blood	blood
18	chr6:161600400-161607000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:161600400-161619400	Weak transcription	Fetal Lung	lung
20	chr6:161600400-161626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:161600600-161607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:161600600-161613000	Weak transcription	Primary B cells from cord blood	blood
23	chr6:161600600-161613800	Weak transcription	Fetal Brain Female	brain
24	chr6:161600800-161607200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:161600800-161607600	Weak transcription	Ovary	ovary
26	chr6:161600800-161608400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:161601400-161608000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:161601400-161610400	Weak transcription	Aorta	Aorta
29	chr6:161601400-161636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:161601800-161609400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:161601800-161609800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:161602000-161613800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:161602000-161619400	Weak transcription	Brain Germinal Matrix	brain
34	chr6:161602400-161607000	Weak transcription	Esophagus	oesophagus
35	chr6:161602400-161607400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:161602400-161609800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:161602400-161613800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:161602600-161606800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:161602600-161607000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:161602600-161607400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:161602800-161607000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:161602800-161618600	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:161602800-161626000	Weak transcription	Gastric	stomach
44	chr6:161603200-161607400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:161603400-161606800	Weak transcription	NH-A	brain
46	chr6:161604000-161609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:161604000-161610200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:161604200-161607600	Weak transcription	Lung	lung
49	chr6:161604400-161607000	Weak transcription	Brain Angular Gyrus	brain
50	chr6:161604400-161607400	Weak transcription	Brain Inferior Temporal Lobe	brain

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