Variant report

Variant	rs4971204
Chromosome Location	chr1:173777398-173777399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173776652..173778542-chr1:173790947..173793244,2	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1322775	0.88[YRI][hapmap]
rs1322777	0.88[YRI][hapmap]
rs1322780	0.87[YRI][hapmap]
rs1951627	0.87[YRI][hapmap]
rs4971205	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5878	0.87[YRI][hapmap]
rs6663875	0.87[YRI][hapmap]
rs7366443	0.88[AFR][1000 genomes]
rs9286895	0.88[YRI][hapmap]
rs941989	0.87[YRI][hapmap]
rs9425430	0.87[YRI][hapmap]
rs9661233	0.88[YRI][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
3	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
6	chr1:173749200-173792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173749800-173777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:173751400-173792200	Weak transcription	Fetal Kidney	kidney
9	chr1:173752600-173790000	Weak transcription	HepG2	liver
10	chr1:173753200-173792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:173753200-173792800	Weak transcription	Esophagus	oesophagus
12	chr1:173753400-173787800	Weak transcription	Right Ventricle	heart
13	chr1:173753400-173792600	Weak transcription	Spleen	Spleen
14	chr1:173753400-173792800	Weak transcription	Gastric	stomach
15	chr1:173753400-173792800	Weak transcription	Pancreas	Pancrea
16	chr1:173753600-173787600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:173753600-173792600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:173754200-173792200	Weak transcription	Fetal Brain Female	brain
19	chr1:173754400-173782200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:173754400-173786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:173754400-173792600	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:173755200-173791600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:173755400-173783200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:173755400-173787400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:173755400-173787400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:173755400-173792200	Weak transcription	HSMMtube	muscle
27	chr1:173755400-173792600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:173756800-173783400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:173756800-173791800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:173757400-173778800	Weak transcription	Adipose Nuclei	Adipose
31	chr1:173757400-173791800	Weak transcription	Brain Germinal Matrix	brain
32	chr1:173758800-173792200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:173759600-173777400	Weak transcription	Liver	Liver
34	chr1:173761000-173784200	Weak transcription	Lung	lung
35	chr1:173761000-173788000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:173761000-173792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:173761400-173782400	Weak transcription	Fetal Heart	heart
38	chr1:173767200-173780400	Strong transcription	Fetal Thymus	thymus
39	chr1:173767600-173778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:173768000-173778600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:173768000-173780200	Weak transcription	NHEK	skin
42	chr1:173770000-173778400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:173770000-173792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:173771400-173780800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:173771400-173781200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:173771600-173780600	Strong transcription	Dnd41	blood
47	chr1:173771600-173780800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:173771800-173777800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:173772000-173778000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:173772000-173781400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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