Variant report

Variant	rs200992094
Chromosome Location	chr16:71509359-71509360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71508819..71510748-chr16:71511995..71514492,2	K562	blood:
2	chr16:71508758..71510611-chr16:71516213..71518587,2	MCF-7	breast:
3	chr16:71507450..71511299-chr16:71511883..71513820,5	K562	blood:
4	chr16:71501449..71503485-chr16:71506644..71509669,3	MCF-7	breast:
5	chr16:71494025..71497980-chr16:71506815..71510228,4	K562	blood:
6	chr16:71508246..71511064-chr16:71516547..71519494,2	K562	blood:

Variant related genes	Relation type
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000157429	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv3430542	chr16:71508834-71509392	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3411957	chr16:71509290-71510579	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71496400-71509400	Weak transcription	Small Intestine	intestine
2	chr16:71496600-71509400	Weak transcription	Colonic Mucosa	Colon
3	chr16:71496600-71509400	Weak transcription	Esophagus	oesophagus
4	chr16:71496600-71509400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:71496600-71511400	Weak transcription	Pancreas	Pancrea
6	chr16:71496800-71509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:71496800-71509400	Weak transcription	Psoas Muscle	Psoas
8	chr16:71496800-71512000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:71496800-71512200	Weak transcription	Fetal Intestine Small	intestine
10	chr16:71497000-71511800	Weak transcription	Brain Substantia Nigra	brain
11	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
13	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:71497200-71509400	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:71497200-71509400	Weak transcription	Lung	lung
16	chr16:71497400-71509600	Weak transcription	Gastric	stomach
17	chr16:71497400-71509800	Weak transcription	Spleen	Spleen
18	chr16:71502800-71517400	Weak transcription	Dnd41	blood
19	chr16:71503800-71509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:71504000-71509400	Weak transcription	Fetal Lung	lung
21	chr16:71504400-71509800	Weak transcription	Fetal Kidney	kidney
22	chr16:71504400-71512800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:71504600-71513600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr16:71504800-71512800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:71504800-71513000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:71505000-71513000	Strong transcription	Adipose Nuclei	Adipose
27	chr16:71505600-71509800	Weak transcription	GM12878-XiMat	blood
28	chr16:71505800-71509800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:71506000-71509400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:71506400-71509400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:71506400-71517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:71507200-71509400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:71507200-71509600	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:71507200-71510000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:71507200-71514800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:71507200-71517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:71507400-71517800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:71507600-71509400	Enhancers	HMEC	breast
39	chr16:71507600-71509600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr16:71507600-71512800	Strong transcription	Ovary	ovary
41	chr16:71507600-71513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:71507600-71517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:71507600-71517400	Weak transcription	Fetal Brain Male	brain
44	chr16:71507800-71509400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:71507800-71509400	Enhancers	HSMM	muscle
46	chr16:71507800-71509400	Enhancers	NH-A	brain
47	chr16:71507800-71509400	Enhancers	NHEK	skin
48	chr16:71507800-71509400	Enhancers	NHLF	lung
49	chr16:71507800-71509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:71507800-71509600	Enhancers	HSMMtube	muscle

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