Variant report

Variant	rs6917616
Chromosome Location	chr6:119674349-119674350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:119674313-119674363	ECC-1	luminal epithelium:	n/a
2	chr6:119674313-119674363	H1-hESC	embryonic stem cell:	embryo
3	chr6:119674313-119674363	NHBE	bronchial:	n/a
4	chr6:119674313-119674363	SK-N-SH_RA	brain:	n/a
5	chr6:119674313-119674363	HRPEpiC	eye:	n/a
6	chr6:119674313-119674363	HL-60	blood:	n/a
7	chr6:119674313-119674363	HMEC	breast:	n/a
8	chr6:119674313-119674363	HNPCEpiC	eye:	n/a
9	chr6:119674313-119674363	LNCaP	prostate:	n/a
10	chr6:119674313-119674363	AG04449	skin:	fetal
11	chr6:119674313-119674363	CMK	blood:	n/a
12	chr6:119674313-119674363	SAEC	small airway:	n/a
13	chr6:119674313-119674363	AG09309	skin:	n/a
14	chr6:119674313-119674363	HCPEpiC	choroid plexus:	n/a
15	chr6:119674313-119674363	GM19239	blood:	n/a
16	chr6:119674313-119674363	SK-N-SH	brain:	n/a
17	chr6:119674313-119674363	ovcar-3	ovarian:	n/a
18	chr6:119674313-119674363	PFSK-1	brain:	n/a
19	chr6:119674313-119674363	MCF-7	breast:	n/a
20	chr6:119674313-119674363	NT2-D1	testis:	n/a
21	chr6:119674313-119674363	HRE	kidney:	n/a
22	chr6:119674313-119674363	GM06990	blood:	n/a
23	chr6:119674313-119674363	AG10803	skin:	n/a
24	chr6:119674313-119674363	MCF10A-Er-Src	breast:	n/a
25	chr6:119674313-119674363	BE2_C	brain:	n/a
26	chr6:119674313-119674363	HAEpiC	amniotic membrane:	n/a
27	chr6:119674313-119674363	K562	blood:	n/a
28	chr6:119674313-119674363	HEK293	kidney:	embryo
29	chr6:119674313-119674363	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:119674313-119674363	PANC-1	pancreas:	n/a
31	chr6:119674313-119674363	AoSMC	blood vessel:	n/a
32	chr6:119674313-119674363	Jurkat	blood:	n/a
33	chr6:119674313-119674363	HCT-116	colon:	n/a
34	chr6:119674313-119674363	HEEpiC	esophagus:	n/a
35	chr6:119674313-119674363	HUVEC	blood vessel:	n/a
36	chr6:119674313-119674363	GM12878	blood:	n/a
37	chr6:119674313-119674363	HRCEpiC	kidney:	n/a
38	chr6:119674313-119674363	T-47D	breast:	n/a
39	chr6:119674313-119674363	HIPEpiC	eye:	n/a
40	chr6:119674313-119674363	A549	lung:	n/a
41	chr6:119674313-119674363	NB4	blood:	n/a
42	chr6:119674313-119674363	GM12892	blood:	n/a
43	chr6:119674313-119674363	AG04450	lung:	fetal
44	chr6:119674313-119674363	NH-A	brain:	n/a
45	chr6:119674313-119674363	Hepatocyte	liver:	n/a
46	chr6:119674313-119674363	HCF	heart:	n/a
47	chr6:119674313-119674363	BJ	skin:	n/a
48	chr6:119674313-119674363	IMR90	lung:	fetal
49	chr6:119674313-119674363	SKMC	muscle:	n/a
50	chr6:119674313-119674363	SK-N-MC	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119673474..119675079-chr6:119676928..119679552,2	K562	blood:
2	chr6:119671918..119674788-chr6:119887253..119890815,3	K562	blood:
3	chr6:119668152..119672285-chr6:119673337..119678807,6	MCF-7	breast:
4	chr6:119668881..119671932-chr6:119672214..119675857,4	MCF-7	breast:

No data

Variant related genes	Relation type
MAN1A1	CpG island
ENSG00000111885	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7743150	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119671800-119689200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119672000-119674400	Weak transcription	Small Intestine	intestine
3	chr6:119672000-119674600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:119672000-119675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:119672200-119674400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:119672200-119674600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:119672200-119674600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:119672200-119675000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:119672400-119674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:119672400-119674400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:119672400-119674400	Weak transcription	Brain Anterior Caudate	brain
12	chr6:119672400-119674400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:119672400-119674600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:119672400-119675600	Enhancers	Fetal Kidney	kidney
15	chr6:119672400-119675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:119672400-119676200	Enhancers	Primary B cells from cord blood	blood
17	chr6:119672600-119674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:119672600-119674400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:119673200-119674400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:119673200-119674400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:119673200-119674400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:119673200-119674600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:119673400-119674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:119673400-119676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:119673400-119676200	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:119673400-119677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:119673400-119678200	Weak transcription	NHDF-Ad	bronchial
28	chr6:119673400-119690000	Weak transcription	K562	blood
29	chr6:119673600-119675400	Enhancers	Dnd41	blood
30	chr6:119673600-119680800	Weak transcription	Fetal Heart	heart
31	chr6:119673600-119687200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:119674000-119674400	Enhancers	GM12878-XiMat	blood
33	chr6:119674000-119675400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:119674200-119674400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:119674200-119674600	Enhancers	Adipose Nuclei	Adipose
36	chr6:119674200-119674600	Enhancers	HepG2	liver

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