Variant report

Variant	rs536670438
Chromosome Location	chr1:9842621-9842622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9832750..9834507-chr1:9841729..9844026,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv2298	chr1:9826286-9857487	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1848817	chr1:9842576-9855529	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1821566	chr1:9842576-9856687	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9822200-9844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
6	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:9828200-9844600	Weak transcription	NH-A	brain
8	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:9833200-9844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:9833400-9843000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:9833400-9844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:9833400-9844400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:9833400-9844400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:9833400-9844600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:9833400-9845400	Weak transcription	Colonic Mucosa	Colon
16	chr1:9833400-9845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:9833400-9846400	Weak transcription	Thymus	Thymus
18	chr1:9833400-9846600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:9833400-9846800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:9833400-9846800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:9833400-9846800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:9833400-9846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:9833400-9846800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:9833400-9846800	Weak transcription	Esophagus	oesophagus
25	chr1:9833400-9846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:9833400-9847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
32	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
34	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
36	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:9833600-9844400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:9833600-9844400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:9833600-9845000	Weak transcription	HepG2	liver
41	chr1:9833600-9846800	Weak transcription	Left Ventricle	heart
42	chr1:9833600-9847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:9833600-9851400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:9833600-9851600	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:9833600-9852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:9833600-9852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:9833600-9852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:9833600-9853400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:9833800-9846400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:9833800-9847000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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