Variant report

Variant	rs12194757
Chromosome Location	chr6:160219136-160219137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:160218978-160221406	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:160219090-160219140	PFSK-1	brain:	n/a
2	chr6:160219090-160219140	NHBE	bronchial:	n/a
3	chr6:160219090-160219140	SK-N-SH_RA	brain:	n/a
4	chr6:160219090-160219140	RPTEC	kidney:	n/a
5	chr6:160219090-160219140	HEK293	kidney:	embryo
6	chr6:160219090-160219140	HNPCEpiC	eye:	n/a
7	chr6:160219090-160219140	Jurkat	blood:	n/a
8	chr6:160219090-160219140	IMR90	lung:	fetal
9	chr6:160219090-160219140	SK-N-SH	brain:	n/a
10	chr6:160219090-160219140	PrEC	prostate:	n/a
11	chr6:160219090-160219140	AG04450	lung:	fetal
12	chr6:160219090-160219140	HRE	kidney:	n/a
13	chr6:160219090-160219140	GM12892	blood:	n/a
14	chr6:160219090-160219140	HCPEpiC	choroid plexus:	n/a
15	chr6:160219090-160219140	HIPEpiC	eye:	n/a
16	chr6:160219090-160219140	GM06990	blood:	n/a
17	chr6:160219090-160219140	AG04449	skin:	fetal
18	chr6:160219090-160219140	NH-A	brain:	n/a
19	chr6:160219090-160219140	T-47D	breast:	n/a
20	chr6:160219090-160219140	MCF10A-Er-Src	breast:	n/a
21	chr6:160219090-160219140	SAEC	small airway:	n/a
22	chr6:160219090-160219140	Hepatocyte	liver:	n/a
23	chr6:160219090-160219140	SK-N-MC	brain:	n/a
24	chr6:160219090-160219140	H1-hESC	embryonic stem cell:	embryo
25	chr6:160219090-160219140	U87	brain:	n/a
26	chr6:160219090-160219140	HRPEpiC	eye:	n/a
27	chr6:160219090-160219140	HPAEpiC	pulmonary alveolar:	n/a
28	chr6:160219090-160219140	PANC-1	pancreas:	n/a
29	chr6:160219090-160219140	BJ	skin:	n/a
30	chr6:160219090-160219140	ovcar-3	ovarian:	n/a
31	chr6:160219090-160219140	Caco-2	colon:	n/a
32	chr6:160219090-160219140	K562	blood:	n/a
33	chr6:160219090-160219140	NB4	blood:	n/a
34	chr6:160219090-160219140	MCF-7	breast:	n/a
35	chr6:160219090-160219140	SKMC	muscle:	n/a
36	chr6:160219090-160219140	AoSMC	blood vessel:	n/a
37	chr6:160219090-160219140	AG09319	gingival:	n/a
38	chr6:160219090-160219140	AG09309	skin:	n/a
39	chr6:160219090-160219140	GM12891	blood:	n/a
40	chr6:160219090-160219140	HMEC	breast:	n/a
41	chr6:160219090-160219140	AG10803	skin:	n/a
42	chr6:160219090-160219140	HUVEC	blood vessel:	n/a
43	chr6:160219090-160219140	LNCaP	prostate:	n/a
44	chr6:160219090-160219140	GM19239	blood:	n/a
45	chr6:160219090-160219140	HAEpiC	amniotic membrane:	n/a
46	chr6:160219090-160219140	HepG2	liver:	n/a
47	chr6:160219090-160219140	HRCEpiC	kidney:	n/a
48	chr6:160219090-160219140	NHDF-neo	bronchial:	n/a
49	chr6:160219090-160219140	GM12878	blood:	n/a
50	chr6:160219090-160219140	ProgFib	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160218872..160220739-chr6:160227710..160229227,2	K562	blood:
2	chr6:160214270..160217259-chr6:160217318..160219276,2	MCF-7	breast:
3	chr6:160219099..160221225-chr6:160234466..160236638,2	K562	blood:
4	chr6:160112825..160115357-chr6:160217525..160219503,2	K562	blood:
5	chr6:160112708..160115093-chr6:160218217..160219764,2	MCF-7	breast:
6	chr6:160211542..160213477-chr6:160219039..160221211,2	MCF-7	breast:

No data

Variant related genes	Relation type
PNLDC1	TF binding region
PNLDC1	CpG island
ENSG00000112110	Chromatin interaction
ENSG00000112096	Chromatin interaction

rs_ID	r²[population]
rs4987023	1.00[CHB][hapmap]
rs5746096	1.00[CHB][hapmap];1.00[LWK][hapmap]
rs5746129	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs8191704	1.00[CHB][hapmap];1.00[MEX][hapmap]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160212600-160221200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:160212800-160219600	Weak transcription	Spleen	Spleen
3	chr6:160212800-160228600	Weak transcription	Right Ventricle	heart
4	chr6:160213000-160219200	Weak transcription	Fetal Brain Male	brain
5	chr6:160213200-160220400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr6:160213200-160221000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:160213400-160221000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr6:160213400-160221200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:160213400-160221200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:160213400-160221600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:160213600-160221000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:160213600-160221200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:160213600-160221400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr6:160213600-160222000	Strong transcription	Thymus	Thymus
15	chr6:160213800-160220800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:160213800-160220800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:160213800-160221000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:160213800-160221000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr6:160213800-160221000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:160213800-160237400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:160214000-160221000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:160214000-160221000	Strong transcription	Adipose Nuclei	Adipose
23	chr6:160214000-160221000	Strong transcription	Liver	Liver
24	chr6:160214000-160221200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:160214000-160221600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:160214000-160221600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:160214000-160221800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:160214000-160222000	Strong transcription	Primary T cells from cord blood	blood
29	chr6:160214000-160222000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:160214000-160222000	Strong transcription	Fetal Stomach	stomach
31	chr6:160214000-160222000	Strong transcription	Fetal Thymus	thymus
32	chr6:160214000-160245000	Weak transcription	Psoas Muscle	Psoas
33	chr6:160214200-160221200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:160214200-160221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:160214200-160221800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:160214200-160222200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:160214400-160221200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:160214400-160221800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr6:160214600-160221400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:160214600-160222400	Weak transcription	Small Intestine	intestine
41	chr6:160215000-160221200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr6:160215400-160220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:160215400-160221000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:160215400-160221400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:160215400-160221400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:160215600-160221000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:160216000-160221200	Strong transcription	Brain Germinal Matrix	brain
48	chr6:160216000-160221400	Strong transcription	Dnd41	blood
49	chr6:160216200-160219800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr6:160216200-160220200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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