Variant report

Variant	rs548972734
Chromosome Location	chr1:214800084-214800085
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	chr1:214796160..214799538-chr1:214799766..214802874,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
4	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:214782000-214803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:214783200-214817800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
11	chr1:214784600-214834000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:214784800-214803600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:214784800-214807400	Weak transcription	Fetal Brain Female	brain
14	chr1:214785600-214819400	Strong transcription	K562	blood
15	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
16	chr1:214785800-214800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:214786600-214800200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:214786600-214833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:214786800-214800400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:214786800-214805200	Strong transcription	Dnd41	blood
23	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:214787800-214800400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:214788000-214803800	Weak transcription	Placenta	Placenta
27	chr1:214788000-214810400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:214788200-214820600	Weak transcription	Fetal Heart	heart
29	chr1:214788600-214803800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
31	chr1:214790800-214800200	Strong transcription	Hela-S3	cervix
32	chr1:214790800-214800600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:214790800-214805600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:214791200-214800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:214793000-214807400	Strong transcription	HSMM	muscle
36	chr1:214793600-214810400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:214793800-214810200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:214794400-214833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:214794800-214801800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:214794800-214803800	Weak transcription	Pancreas	Pancrea
41	chr1:214795000-214801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:214795000-214801200	Weak transcription	Fetal Brain Male	brain
43	chr1:214795000-214803200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:214795000-214805200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:214795600-214803200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:214795600-214803600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:214795600-214807600	Weak transcription	Primary B cells from cord blood	blood
49	chr1:214795800-214803800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:214796000-214801800	Weak transcription	Fetal Intestine Large	intestine

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