Variant report

Variant	rs2985828
Chromosome Location	chr1:67416101-67416102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67402975..67406629-chr1:67416021..67418318,3	K562	blood:
2	chr1:67409222..67411478-chr1:67414962..67417860,3	K562	blood:
3	chr1:67415910..67417430-chr17:57920036..57922136,2	MCF-7	breast:
4	chr1:67415910..67417430-chr17:57920692..57922815,2	MCF-7	breast:
5	chr1:67398825..67400336-chr1:67415050..67417844,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11208997	1.00[ASW][hapmap]
rs17443885	1.00[AFR][1000 genomes]
rs6687611	1.00[ASW][hapmap]
rs7531589	1.00[ASW][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
3	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
5	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
6	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
7	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
10	chr1:67403200-67419800	Weak transcription	Gastric	stomach
11	chr1:67403200-67429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:67405200-67431400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:67405600-67445400	Strong transcription	Fetal Thymus	thymus
14	chr1:67406200-67433000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr1:67406400-67439200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:67406400-67455600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:67407000-67445400	Strong transcription	Dnd41	blood
18	chr1:67407600-67431200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:67408200-67448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:67408200-67450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:67409200-67426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:67409400-67446400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:67409400-67447600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:67409600-67419400	Weak transcription	Fetal Heart	heart
25	chr1:67409600-67430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:67410000-67431200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:67410400-67433000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:67410600-67419800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:67410600-67446400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:67410600-67453200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:67410800-67416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:67410800-67426400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:67411000-67455000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:67411200-67416600	Strong transcription	HSMM	muscle
35	chr1:67411200-67419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:67411200-67419800	Strong transcription	Fetal Intestine Large	intestine
37	chr1:67411200-67421600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:67411200-67421600	Strong transcription	Placenta	Placenta
39	chr1:67411200-67429600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:67411200-67431400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:67411200-67431800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:67411200-67433800	Strong transcription	Liver	Liver
43	chr1:67411200-67454800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:67411200-67456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:67411400-67419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:67411600-67416400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:67411600-67429200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:67411600-67429400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:67411800-67417600	Strong transcription	NH-A	brain
50	chr1:67411800-67419400	Strong transcription	Hela-S3	cervix

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