Variant report

Variant	rs12121167
Chromosome Location	chr1:212320935-212320936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212320184..212322425-chr1:212457861..212460696,2	K562	blood:
2	chr1:212311637..212315507-chr1:212320435..212322223,3	K562	blood:
3	chr1:212318676..212322551-chr1:212455747..212460203,6	MCF-7	breast:
4	chr1:212311797..212314623-chr1:212318493..212322372,4	MCF-7	breast:
5	chr1:212314893..212318447-chr1:212320159..212322385,3	K562	blood:
6	chr1:212319256..212321258-chr1:212324558..212327324,3	K562	blood:
7	chr1:212311637..212314238-chr1:212320435..212322223,2	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12120122	1.00[CEU][hapmap]
rs12120150	1.00[CEU][hapmap]
rs12128609	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12131323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12139237	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145757	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17018334	1.00[CEU][hapmap]
rs17018421	1.00[CEU][hapmap]
rs17018532	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212301000-212321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:212309000-212321000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:212313400-212325800	Weak transcription	Right Atrium	heart
5	chr1:212313400-212326200	Weak transcription	Colonic Mucosa	Colon
6	chr1:212313600-212324400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:212314400-212332200	Weak transcription	Dnd41	blood
8	chr1:212319600-212321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:212320400-212321000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:212320400-212321000	Enhancers	Fetal Heart	heart
11	chr1:212320400-212321400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:212320400-212321400	Enhancers	K562	blood
13	chr1:212320400-212332400	Weak transcription	Gastric	stomach
14	chr1:212320600-212321000	Enhancers	Fetal Lung	lung
15	chr1:212320600-212321000	Flanking Active TSS	Stomach Mucosa	stomach
16	chr1:212320600-212321200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:212320600-212321200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:212320600-212321200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:212320600-212321200	Enhancers	Fetal Intestine Small	intestine
20	chr1:212320600-212321200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr1:212320600-212321200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:212320600-212321200	Enhancers	A549	lung
23	chr1:212320600-212321400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:212320600-212321400	Enhancers	Fetal Intestine Large	intestine
25	chr1:212320600-212321400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:212320800-212321000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:212320800-212321200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:212320800-212321200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:212320800-212321200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:212320800-212321200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:212320800-212321200	Enhancers	Fetal Thymus	thymus
32	chr1:212320800-212321200	Enhancers	Pancreas	Pancrea

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