Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:36769485..36774936-chr6:36775864..36780694,5	K562	blood:
2	chr6:36779359..36780999-chr6:36789470..36790990,2	K562	blood:
3	chr6:36773141..36775205-chr6:36779352..36780947,2	MCF-7	breast:
4	chr6:36777747..36780393-chr6:36794218..36796370,2	K562	blood:

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs236384	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs236390	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs236392	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs236393	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs236396	0.89[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs236398	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs236399	0.95[ASN][1000 genomes]
rs236402	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5261	chr6:36754545-36798824	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs236391	PACSIN1	cis	parietal	SCAN
rs236391	C6orf64	cis	parietal	SCAN
rs236391	CLPS	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36762600-36789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:36774000-36785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:36774200-36788600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:36777000-36797800	Weak transcription	Pancreas	Pancrea
5	chr6:36778200-36779800	Enhancers	Adipose Nuclei	Adipose
6	chr6:36778600-36784000	Weak transcription	HMEC	breast
7	chr6:36779000-36781000	Bivalent Enhancer	HepG2	liver
8	chr6:36779000-36788000	Weak transcription	HUVEC	blood vessel
9	chr6:36779000-36789200	Weak transcription	Left Ventricle	heart
10	chr6:36779000-36789400	Weak transcription	Fetal Stomach	stomach
11	chr6:36779000-36794000	Weak transcription	Brain Germinal Matrix	brain
12	chr6:36779200-36779600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:36779200-36780400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:36779200-36787200	Weak transcription	Brain Anterior Caudate	brain
15	chr6:36779200-36787600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:36779200-36789400	Weak transcription	Right Ventricle	heart
17	chr6:36779400-36779600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:36779400-36780400	Weak transcription	Right Atrium	heart
19	chr6:36779400-36787400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:36779400-36797600	Weak transcription	Fetal Brain Female	brain

Quick Search: