Variant report

Variant	rs539288996
Chromosome Location	chr6:38121014-38121015
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	chr6:38119695..38122096-chr6:38125014..38126527,2	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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2754649	chr6:37985025-38147910	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv981301	chr6:38119797-38124102	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38081800-38121800	Weak transcription	Psoas Muscle	Psoas
2	chr6:38084000-38122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:38084600-38124200	Weak transcription	Hela-S3	cervix
4	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:38095200-38122600	Weak transcription	A549	lung
6	chr6:38103000-38127200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:38109200-38123000	Weak transcription	Ovary	ovary
8	chr6:38109200-38129000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:38110200-38122200	Weak transcription	HUVEC	blood vessel
10	chr6:38111200-38122400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
12	chr6:38112400-38128400	Weak transcription	Brain Germinal Matrix	brain
13	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
14	chr6:38112800-38121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:38113000-38127800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:38113200-38134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:38114600-38121400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:38114600-38122600	Weak transcription	HMEC	breast
21	chr6:38114600-38123000	Weak transcription	Brain Substantia Nigra	brain
22	chr6:38114600-38123000	Weak transcription	NH-A	brain
23	chr6:38114600-38127200	Weak transcription	HSMM	muscle
24	chr6:38115200-38123200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:38115200-38123200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:38115200-38123200	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:38115800-38121800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:38115800-38122800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:38116000-38123400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:38116400-38121200	Strong transcription	Fetal Intestine Small	intestine
31	chr6:38116400-38121400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:38116400-38122400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:38117200-38122000	Strong transcription	Liver	Liver
34	chr6:38117200-38131800	Weak transcription	Stomach Mucosa	stomach
35	chr6:38117600-38121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:38117600-38121800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:38117600-38122600	Weak transcription	Right Atrium	heart
38	chr6:38117600-38123600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:38117800-38121200	Strong transcription	Fetal Stomach	stomach
41	chr6:38117800-38122000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:38118000-38123200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:38118200-38121600	Strong transcription	Colonic Mucosa	Colon
44	chr6:38118200-38122600	Weak transcription	NHDF-Ad	bronchial
45	chr6:38118200-38122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:38118400-38122400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:38118400-38122600	Strong transcription	Spleen	Spleen
48	chr6:38118600-38121200	Genic enhancers	Thymus	Thymus
49	chr6:38118600-38121800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:38118800-38121400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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