Variant report

Variant	rs1168109
Chromosome Location	chr1:63159895-63159896
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	chr1:63156575..63159018-chr1:63159130..63161249,2	K562	blood:
2	chr1:63156083..63158075-chr1:63158423..63161249,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1168110	0.93[AFR][1000 genomes]
rs12563308	1.00[CEU][hapmap]
rs12565895	1.00[CEU][hapmap]
rs12566265	1.00[CEU][hapmap]
rs17123694	1.00[CEU][hapmap]
rs17123705	1.00[CEU][hapmap]
rs17123712	1.00[CEU][hapmap]
rs17123721	1.00[CEU][hapmap]
rs17123725	1.00[CEU][hapmap]
rs17123740	1.00[CEU][hapmap]
rs17123743	1.00[CEU][hapmap]
rs17123828	0.82[JPT][hapmap]
rs2182867	0.85[AFR][1000 genomes]
rs4244157	0.85[AFR][1000 genomes]
rs6657562	0.91[AFR][1000 genomes]
rs7544844	0.84[AFR][1000 genomes]
rs943699	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3453297	chr1:63159839-63159940	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv3453299	chr1:63159853-63159936	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63155800-63165000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:63156400-63170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:63156600-63160000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:63156600-63170400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:63156800-63160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:63156800-63160400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:63156800-63160400	Weak transcription	Gastric	stomach
8	chr1:63156800-63161400	Weak transcription	Fetal Brain Female	brain
9	chr1:63157000-63160600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:63157200-63160400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:63157200-63161000	Weak transcription	Fetal Lung	lung
12	chr1:63157400-63161200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:63157400-63170400	Weak transcription	Fetal Stomach	stomach
14	chr1:63157600-63160600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:63157600-63173000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:63157600-63180800	Weak transcription	Fetal Brain Male	brain
17	chr1:63157800-63167200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:63158200-63164200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:63158400-63160400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:63158400-63166800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:63158800-63160600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:63158800-63170600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:63159000-63162200	Weak transcription	HepG2	liver
24	chr1:63159200-63161400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:63159600-63160000	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr1:63159600-63160400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:63159600-63160600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:63159600-63166000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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