Variant report

Variant	rs10913700
Chromosome Location	chr1:179114228-179114229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:179113652-179114330	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ABL2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10913704	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11584312	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11584705	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11589113	1.00[ASN][1000 genomes]
rs12120194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122267	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12126360	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12127868	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs12128447	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129054	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132268	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133704	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133855	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12134611	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12140256	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs1318056	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490311	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16853640	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2636278	0.84[YRI][hapmap]
rs28913570	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28913877	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28914503	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56949555	1.00[ASN][1000 genomes]
rs57903944	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73038859	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038874	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038878	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044740	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044744	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044747	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73044749	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044753	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044761	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044765	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73044767	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012667	chr1:179094571-179120280	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1002253	chr1:179094571-179120938	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1001191	chr1:179097246-179120938	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1009493	chr1:179110523-179121079	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179093400-179117200	Weak transcription	Fetal Stomach	stomach
2	chr1:179099200-179114800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:179099600-179116800	Weak transcription	Thymus	Thymus
4	chr1:179099600-179119400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:179099600-179122600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:179100000-179121000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:179100600-179117200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:179107600-179119800	Weak transcription	Liver	Liver
9	chr1:179110000-179118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:179110200-179116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:179110200-179121400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:179111000-179118200	Weak transcription	Primary B cells from cord blood	blood
13	chr1:179111400-179116400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:179111400-179117400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:179111400-179118400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:179111400-179121400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:179111400-179121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:179112200-179118800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:179112200-179121800	Weak transcription	Adipose Nuclei	Adipose
20	chr1:179112200-179121800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:179112200-179124600	Weak transcription	Left Ventricle	heart
22	chr1:179112400-179114600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:179112400-179114800	Weak transcription	Psoas Muscle	Psoas
24	chr1:179112400-179115800	Weak transcription	NHLF	lung
25	chr1:179112400-179116200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:179112400-179117200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:179112400-179117400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:179112400-179117400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:179112400-179117600	Weak transcription	Right Ventricle	heart
30	chr1:179112400-179118400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:179112400-179119600	Weak transcription	HepG2	liver
32	chr1:179112400-179121000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:179112400-179121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:179112400-179121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:179112400-179121400	Weak transcription	Small Intestine	intestine
36	chr1:179112400-179121600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:179112400-179133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:179112400-179139000	Weak transcription	K562	blood
39	chr1:179112600-179116400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:179112800-179114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:179112800-179114400	Enhancers	Osteobl	bone
42	chr1:179112800-179115000	Enhancers	NH-A	brain
43	chr1:179112800-179115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:179112800-179116200	Enhancers	NHDF-Ad	bronchial
45	chr1:179112800-179116200	Enhancers	NHEK	skin
46	chr1:179112800-179116800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:179112800-179117200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:179112800-179119000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:179113000-179114400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:179113000-179114600	Weak transcription	Primary T cells from cord blood	blood

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