Variant report

Variant	rs17328078
Chromosome Location	chr2:153432490-153432491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153431216..153433444-chr2:153435186..153437095,2	MCF-7	breast:
2	chr2:153430494..153433097-chr2:153433231..153437308,4	MCF-7	breast:
3	chr2:153431392..153434318-chr2:153435903..153437981,3	K562	blood:
4	chr2:153431363..153434318-chr2:153436481..153440010,3	K562	blood:
5	chr2:153430268..153432774-chr2:153433717..153435256,2	K562	blood:
6	chr2:153430733..153433081-chr2:153465182..153467011,2	K562	blood:
7	chr2:153430733..153432717-chr2:153465102..153467011,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs934751	1.00[ASN][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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:153400600-153433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:153403200-153448000	Weak transcription	Lung	lung
6	chr2:153404200-153442400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:153405200-153441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153407600-153437800	Weak transcription	Pancreas	Pancrea
9	chr2:153414400-153433600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:153415000-153436800	Weak transcription	HUVEC	blood vessel
11	chr2:153415000-153438200	Weak transcription	Fetal Lung	lung
12	chr2:153415800-153434400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:153416400-153438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:153416400-153454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:153416400-153465200	Weak transcription	Left Ventricle	heart
16	chr2:153417800-153442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:153418000-153433200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:153418000-153434000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:153418200-153437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:153418800-153444600	Weak transcription	Fetal Brain Male	brain
21	chr2:153419200-153437400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:153419600-153438000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:153420400-153443400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:153420600-153433800	Weak transcription	Ovary	ovary
25	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
26	chr2:153424000-153433800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:153425200-153438000	Weak transcription	Fetal Brain Female	brain
28	chr2:153425600-153438200	Enhancers	Brain Hippocampus Middle	brain
29	chr2:153427400-153433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:153427800-153433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:153428000-153433600	Weak transcription	Aorta	Aorta
32	chr2:153428000-153433800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:153428000-153436800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:153428000-153436800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:153428000-153438000	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:153428000-153442000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:153428000-153468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:153428200-153440000	Weak transcription	Fetal Heart	heart
39	chr2:153428200-153456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:153428400-153433800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:153428400-153437400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:153428400-153437800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:153428400-153437800	Weak transcription	Adipose Nuclei	Adipose
44	chr2:153428600-153433800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:153429200-153456200	Weak transcription	Spleen	Spleen
46	chr2:153429600-153434000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:153429600-153442200	Strong transcription	HepG2	liver
48	chr2:153429800-153437800	Weak transcription	HSMMtube	muscle
49	chr2:153429800-153439600	Weak transcription	A549	lung
50	chr2:153430000-153433000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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